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Amino Acid Profile - Amino Acid Disorders
 

Carbamoylphosphate Synthetase Deficiency1
Metabolism of amino acids generates ammonia, a highly toxic nitrogen-containing molecule that is eliminated from the body by its incorporation into urea, a non-toxic end product excreted through the kidneys. Carbamyl Phosphate Synthetase (CPS) catalyzes the first step in the detoxification of ammonia through formation of carbamyl phosphate, which enters the urea cycle and ultimately contributes its nitrogen to urea. Deficiency of CPS results in hyperammonemia and life-threatening symptoms. CPS is localized to the mitochondrial matrix and is present in high amount in liver and intestine. The CPS gene has been cloned and mutations identified in patients.

Newborns with CPS deficiency appear normal for the first 24 hours. By 72 hours, symptoms of lethargy, vomiting, hypothermia, respiratory alkalosis and seizures progressing to coma appear. These patients are frequently thought to have sepsis. However, a key laboratory abnormality suggesting a urea cycle defect is low blood urea nitrogen, which should prompt measurement of ammonia. Patients who survive the newborn period often have recurrent episodes of hyperammonemia associated with viral infections or increased dietary protein intake. A neurologically damaged outcome is characteristic of CPS deficiency. Some patients have a later onset with a less severe course making diagnosis difficult.

This disorder most often follows an autosomal recessive inheritance pattern. With recessive disorders affected patients usually have two copies of a disease gene (or mutation) in order to show symptoms. People with only one copy of the disease gene (called carriers) generally do not show signs or symptoms of the condition but can pass the disease gene to their children. When both parents are carriers of the disease gene for a particular disorder, there is a 25% chance with each pregnancy that they will have a child affected with the disorder.

As with all genetic diseases, genetic counseling may be appropriate to help families understand recurrence risks and ensure that they receive proper evaluation and care.

Argininemia
Argininemia is a rare Urea Cycle defect caused by deficiency of Arginase in liver and erythrocytes. Arginase is the final enzyme in the Urea Cycle that catalyzes the breakdown of arginine to ornithine and urea, which is the major metabolite carrying waste nitrogen destined for urinary excretion. Patients with Arginase deficiency have elevated levels arginine in blood. The deficient Arginase gene is located on chromosome

Patients with Argininemia may present from two months to four years of age. Symptoms are progressive spastic paraplegia, failure to thrive, delayed milestones, hyperactivity and irritability, with episodic vomiting, hyperammonemia and seizures. Mental retardation is a result of cerebral atrophy which leads to microcephaly. Hepatomegaly may be present.

This disorder most often follows an autosomal recessive inheritance pattern. With recessive disorders affected patients usually have two copies of a disease gene (or mutation) in order to show symptoms. People with only one copy of the disease gene (called carriers) generally do not show signs or symptoms of the condition but can pass the disease gene to their children. When both parents are carriers of the disease gene for a particular disorder, there is a 25% chance with each pregnancy that they will have a child affected with the disorder.

As with all genetic diseases, genetic counseling may be appropriate to help families understand recurrence risks and ensure that they receive proper evaluation and care.

Argininosuccinic Aciduria
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. Some babies with this disorder experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay and mental retardation. Progressive liver damage, skin lesions, and brittle hair may also be seen.

Occasionally, an individual may inherit a mild form of the disorder in which ammonia accumulates in the bloodstream only during periods of illness or other stress.

Argininosuccinic aciduria occurs in approximately 1 in 70,000 newborns.

Citrullinemia
Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two forms of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes.

Type I citrullinemia (also known as classic citrullinemia) usually becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up in the body they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. These medical problems are life-threatening in many cases. Less commonly, a milder form of type I citrullinemia can develop later in childhood or adulthood. This later-onset form is associated with intense headaches, partial loss of vision, problems with balance and muscle coordination (ataxia), and lethargy. Some people with gene mutations that cause type I citrullinemia never experience signs and symptoms of the disorder.

Type II citrullinemia chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. In some cases, the signs and symptoms of this disorder appear during adulthood (adult-onset). These signs and symptoms can be life-threatening, and are known to be triggered by certain medications, infections, surgery, and alcohol intake in people with adult-onset type II citrullinemia.

The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). This liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.

Type I citrullinemia is the most common form of the disorder, affecting about 1 in 57,000 people worldwide. Type II citrullinemia is found primarily in the Japanese population, where it occurs in an estimated 1 in 100,000 to 230,000 individuals. Type II also has been reported in other populations, including people from East Asia and the Middle East.

Homocystinuria
Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. The most common form of the condition is caused by the lack of an enzyme called cystathionine beta-synthase. This form of homocystinuria is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, and skeletal abnormalities. Problems with development and learning are also evident in some cases.

Less common forms of homocystinuria are caused by a lack of other enzymes involved in processing amino acids. These disorders can cause mental retardation, seizures, problems with movement, and a blood disorder called megaloblastic anemia.

Homocystinuria caused by cystathionine beta-synthase deficiency affects at least 1 in 200,000 to 335,000 people worldwide. The disorder appears to be more common in some countries, such as Ireland (1 in 65,000), Germany (1 in 17,800), Norway (1 in 6,400), and Qatar (1 in 3,000). Other forms of homocystinuria are much rarer, with a small number of cases reported in the scientific literature.

Hypermethioninemia
Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body.

People with hypermethioninemia often do not show any symptoms. Some individuals with hypermethioninemia exhibit learning disabilities, mental retardation, and other neurological problems; delays in motor skills such as standing or walking; sluggishness; muscle weakness; liver problems; unusual facial features; and their breath, sweat, or urine may have a smell resembling boiled cabbage.

Hypermethioninemia can occur with other metabolic disorders, such as homocystinuria, tyrosinemia and galactosemia, which also involve the faulty breakdown of particular molecules. It can also result from liver disease or excessive dietary intake of methionine from consuming large amounts of protein or a methionine-enriched infant formula.

Primary hypermethioninemia that is not caused by other disorders or excess methionine intake appears to be rare; only a small number of cases have been reported. The actual incidence is difficult to determine, however, since many individuals with hypermethioninemia have no symptoms.

2, 4-Dienoyl-CoA Reductase Deficiency
One patient has been reported with 2,4-Dienoyl-CoA Reductase Deficiency. This enzyme is necessary for the degradation of unsaturated fatty acids having even numbered double bonds.

The patient was born with a small body habitus, a short trunk, arms and fingers, and microcephaly. She was readmitted to the hospital on day 2 of life with symptoms of sepsis, hypotonia, decreased feeding and intermittent vomiting. A low carnitine level was found in her plasma. She responded poorly to treatment in the hospital, and later developed respiratory acidosis and died at 4 months of age.

This disorder most often follows an autosomal recessive inheritance pattern. With recessive disorders, affected patients usually have two copies of a disease gene (or mutation) in order to show symptoms. People with only one copy of the disease gene (called carriers) generally do not show signs or symptoms of the condition but can pass the disease gene to their children. When both parents are carriers of the disease gene for a particular disorder, there is a 25% chance with each pregnancy that they will have a child affected with the disorder.

As with all genetic diseases, genetic counseling may be appropriate to help families understand recurrence risks and ensure that they receive proper evaluation and care.

Oxoprolinuria (Pyroglutamic Aciduria)
5-Oxoprolinemia is a rare clinical condition caused by a deficiency of any one of three enzymes in the ?-Glutamyl Cycle. The Cycle provides antioxidant for the body in the form of Glutathione. Three enzymes are involved in the sequential processing of 5-Oxoproline to form glutathione. A deficiency of any one of the enzymes causes 5-Oxoprolinemia, and two of the defects lead to low levels of glutathione. Patients with 5-Oxoprolinemia have been described in several ethnic groups around the world.

Clinical presentation of these deficiencies is variable, from severe to very mild. Glutathione Synthetase Deficiency is the most common defect, reported in over 40 cases worldwide. It usually presents in the newborn period with marked metabolic acidosis, hemolytic anemia, electrolyte imbalance, and jaundice. Patients who survive the initial onset may later have episodes of metabolic decompensation during intercurrent illnesses. They often develop progressive central nervous system symptoms. 5-Oxoproline can reach very high levels during illness.

?-Glutamylcysteine Synthetase Deficiency is less severe than Glutathione Synthetase Deficiency, lacking the metabolic acidosis and having lower 5-Oxoproline levels in plasma and urine. Patients have mild compensated hemolytic anemia as the most consistent finding.

Only a few patients have been reported with 5-Oxoprolinase Deficiency. Their clinical symptoms vary tremendously and may not be due to the metabolic defect. They have normal glutathione levels in erythrocytes and no evidence of hemolytic anemia.

This disorder most often follows an autosomal recessive inheritance pattern. With recessive disorders affected patients usually have two copies of a disease gene (or mutation) in order to show symptoms. People with only one copy of the disease gene (called carriers) generally do not show signs or symptoms of the condition but can pass the disease gene to their children. When both parents are carriers of the disease gene for a particular disorder, there is a 25% chance with each pregnancy that they will have a child affected with the disorder.

As with all genetic diseases, genetic counseling may be appropriate to help families understand recurrence risks and ensure that they receive proper evaluation and care.

Hyperammonemia Hyperornithinemia Homocitrullinuria Syndrome (HHH)
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome was first described in 1969. In affected patients, plasma Ornithine is found to be dramatically elevated. Hyperammonemia is chronically present, but worsens postprandially. The etiology is a deficiency of a mitochondrial carrier protein that normally functions to transport Ornithine into the mitochondria as part of the urea cycle. When transport is defective, Ornithine accumulates in the cytosol and the urea cycle is impaired, resulting in hyperammonemia. The ORNT 1 gene that codes for the transport protein is located on chromosome 13, and several mutations have been identified in affected patients.

HHH Syndrome may present at birth, during childhood or even adulthood. Newborns who are breast fed usually have an uneventful beginning with intermittent hyperammonemia. Infants on high protein formula or foods may vomit with feeding, refuse to eat, become lethargic or develop hyperammonemic coma. Most affected patients exhibit some symptoms, such as lethargy, vomiting, ataxia or chroeoathetosis, impaired growth and delayed development. Seizures are often reported. Mild to profound mental retardation is usually apparent by childhood. Over time, patients will gravitate to a diet low in milk and meat during childhood.

This disorder most often follows an autosomal recessive inheritance pattern. With recessive disorders affected patients usually have two copies of a disease gene (or mutation) in order to show symptoms. People with only one copy of the disease gene (called carriers) generally do not show signs or symptoms of the condition but can pass the disease gene to their children. When both parents are carriers of the disease gene for a particular disorder, there is a 25% chance with each pregnancy that they will have a child affected with the disorder.

As with all genetic diseases, genetic counseling may be appropriate to help families understand recurrence risks and ensure that they receive proper evaluation and care.

Hyperornithinemia with Gyrate Atrophy
The first description of a patient with gyrate atrophy of the choroid and retina, as defined by the characteristic appearance of the ocular fundus and a typical history of visual deterioration, was probably made in 1888. Since that time numerous other case reports have confirmed this condition as a distinct entity. Hyperornithinemia and ornithinuria were recognized as the biochemical marker for this disorder in 1973. Elevations in Ornithine, a non-protein amino acid, are associated with complete or partial deficiency of Ornithine Aminotransferase (OAT) activity.

The major clinical problem in these patients is a slowly progressive loss of vision leading to blindness, usually by the fifth decade of life. Myopia and decreased night vision are early symptoms, usually noted by the first or second decade. Reduced peripheral vision is typically present in the second decade, with nearly all patients ultimately developing cataracts. The combination of the cataracts and diminished visual fields results in progressive visual loss, which is frequently well established by the third decade of life in most patients. However, there is significant variability in vision and a few patients retain good visual function into their sixth or seventh decade.

Younger patients often come to the attention of the ophthalmologist in late childhood or around the time of puberty for evaluation of myopia or decreased night vision. Aside from visual impairment, patients with gyrate atrophy are for the most part asymptomatic. Some patients have mild muscle weakness with associated abnormalities on muscle biopsy and in electromyograms, although creatine phosphokinase activity is normal. Affected patients are developmentally normal.

Hyperornithinemia with Gyrate Atrophy is inherited as an autosomal recessive trait. Both parents are carriers of one normal gene and one abnormal Hyperornithinemia gene. An affected child is born when both parents pass along the Hyperornithinemia gene at conception, resulting in every cell of the body having the two abnormal genes. The risk for carrier parents having an affected pregnancy is one chance in four with every conception. If not screened at birth, all previous siblings should be tested to rule out Hyperornithinemia. This disease has been found in several ethnic groups around the world with a particularly high incidence in Finland.

Maple Syrup Urine Disease
Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. Beginning in early infancy, this condition is characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and developmental delay. The urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name. Maple syrup urine disease can be life-threatening if untreated.

Maple syrup urine disease can be classified by its pattern of signs and symptoms or by its genetic cause. The most common and most severe form of the disease is the classic type, which appears soon after birth. Variant forms of the disorder appear later in infancy or childhood and are typically milder, but still involve mental and physical retardation if not treated.

Maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide. The disorder occurs much more frequently in the Old Order Mennonite population, in which the incidence is about 1 in 358 newborns.

Hyperargininemia due to Arginase
The urea cycle is a series of six reactions necessary to rid the body of the nitrogen generated by the metabolism, primarily of amino acids, from the diet or released as the result of endogenous protein catabolism. Arginase is the sixth and final enzyme of this cycle. Arginase catalyzes the conversion of arginine to urea and ornithine, the latter recycled to continue the cycle. Hyperargininemia due to arginase deficiency is inherited in an autosomal recessive manner and gene for arginase.

This condition rarely presents in the neonatal period and first symptoms typically present in children between 2 and 4 years of age. First symptoms are often neurologically based. If untreated, symptoms are progressive with a gradual loss of developmental milestones.

This disorder most often follows an autosomal recessive inheritance pattern. With recessive disorders affected patients usually have two copies of a disease gene (or mutation) in order to show symptoms. People with only one copy of the disease gene (called carriers) generally do not show signs or symptoms of the condition but can pass the disease gene to their children. When both parents are carriers of the disease gene for a particular disorder, there is a 25% chance with each pregnancy that they will have a child affected with the disorder.

As with all genetic diseases, genetic counseling may be appropriate to help families understand recurrence risks and ensure that they receive proper evaluation and care.

Ornithine Transcarbamylase Deficiency
Ornithine transcarbamylase deficiency (OTCD), the most common of the urea cycle disorders, is a rare metabolic disorder, occurring in one out of every 80,000 births. OTC is a genetic disorder resulting in a mutated and ineffective form of the enzyme ornithine transcarbamylase.

Like other urea cycle disorders, OTC affects the body's ability to get rid of ammonia, a toxic breakdown product of the body's use of protein. As a result, ammonia accumulates in the blood causing hyperammonemia. This ammonia travels to the various organs of the body including the brain, causing coma, brain damage and death.

Another symptom of OTC is a buildup of orotic acid in the blood. This is due to an anapleurosis that occurs with carbamoyl phosphate entering the pyrimidine synthesis pathway.

Ornithine transcarbamylase deficiency often becomes evident in the first few days of life. An infant with ornithine transcarbamylase deficiency may be lacking in energy (lethargic) or unwilling to eat, and have poorly-controlled breathing rate or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Complications from ornithine transcarbamylase deficiency may include developmental delay and mental retardation. Progressive liver damage, skin lesions, and brittle hair may also be seen. Other symptoms include irrational behavior (caused by encephalitis), mood swings, and poor performance in school.

In some affected individuals, signs and symptoms of ornithine transcarbamylase may be less severe, and may not appear until later in life. Some female carriers become symptomatic later in life. This can happen as a result of anorexia, starvation, malnutrition, or even (in at least one case) as a result of gastric bypass surgery. It is also possible for symptoms to be exacerbated by extreme trauma of many sorts, including, (at least in one case) adolescent pregnancy coupled with severe stomach flu.

This disorder most often follows an autosomal recessive inheritance pattern. With recessive disorders affected patients usually have two copies of a disease gene (or mutation) in order to show symptoms. People with only one copy of the disease gene (called carriers) generally do not show signs or symptoms of the condition but can pass the disease gene to their children. When both parents are carriers of the disease gene for a particular disorder, there is a 25% chance with each pregnancy that they will have a child affected with the disorder.

As with all genetic diseases, genetic counseling may be appropriate to help families understand recurrence risks and ensure that they receive proper evaluation and care.

This disorder most often follows an autosomal recessive inheritance pattern. With recessive disorders affected patients usually have two copies of a disease gene (or mutation) in order to show symptoms. People with only one copy of the disease gene (called carriers) generally do not show signs or symptoms of the condition but can pass the disease gene to their children. When both parents are carriers of the disease gene for a particular disorder, there is a 25% chance with each pregnancy that they will have a child affected with the disorder.

As with all genetic diseases, genetic counseling may be appropriate to help families understand recurrence risks and ensure that they receive proper evaluation and care.

Arginase deficiency
Argininemia is a rare Urea Cycle defect caused by deficiency of Arginase in liver and erythrocytes. Arginase is the final enzyme in the Urea Cycle that catalyzes the breakdown of arginine to ornithine and urea, which is the major metabolite carrying waste nitrogen destined for urinary excretion. Patients with Arginase deficiency have elevated levels arginine in blood. The deficient Arginase gene is located on chromosome 6.

Patients with Argininemia may present from two months to four years of age. Symptoms are progressive spastic paraplegia, failure to thrive, delayed milestones, hyperactivity and irritability, with episodic vomiting, hyperammonemia and seizures. Mental retardation is a result of cerebral atrophy which leads to microcephaly. Hepatomegaly may be present.

This disorder most often follows an autosomal recessive inheritance pattern. With recessive disorders affected patients usually have two copies of a disease gene (or mutation) in order to show symptoms. People with only one copy of the disease gene (called carriers) generally do not show signs or symptoms of the condition but can pass the disease gene to their children. When both parents are carriers of the disease gene for a particular disorder, there is a 25% chance with each pregnancy that they will have a child affected with the disorder.

As with all genetic diseases, genetic counseling may be appropriate to help families understand recurrence risks and ensure that they receive proper evaluation and care.

Biotinaidase deficiency
Biotinidase deficiency is an inherited metabolic disorder of biotin (vitamin B) recycling that leads to multiple carboxylase deficiencies.

Symptoms of untreated biotinidase deficiency may appear at any time from 1 week to10 years of age. The most common early symptoms include seizure activity of various types (myoclonic, grand mal, and focal or infantile spasms) and hypotonia. Other early symptoms include breathing problems (tachypnea, hyperventilation, stridor, apnea), skin rashes and alopecia. Later developmental delays, speech problems, ataxia, and vision and hearing problems may occur. Less frequent findings include feeding difficulties, vomiting/diarrhea, fungal infections, hepatomegaly and splenomegaly.

This disorder is inherited in an autosomal recessive pattern. As an autosomal recessive disorder, the parents of a child with biotinidase deficiency are unaffected, healthy carriers of the condition and have one normal gene and one abnormal gene. With each pregnancy, carrier parents have a 25 percent chance of having a child with two copies of the abnormal gene, which results in biotinidase deficiency. Carrier parents have a 50 percent chance of having a child who is an unaffected carrier and a 25 percent chance of having an unaffected, non-carrier child. These risks hold true for each pregnancy. All siblings of infants diagnosed with biotinidase deficiency should be tested; genetic counseling services should be offered to the family.

Cystic Fibrosis
Cystic fibrosis (CF), or mucoviscoidosis, is a hereditary disease that affects mainly the lungs and digestive system, causing progressive disability. Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply cystic fibrosis.

Difficulty breathing and insufficient enzyme production in the pancreas are the most common symptoms. Thick mucus production, as well as a less competent immune system, results in frequent lung infections, which are treated, though not always cured, by oral and intravenous antibiotics and other medications. A multitude of other symptoms, including sinus infections, poor growth, diarrhea, and potential infertility (mostly in males, due to the condition Congenital bilateral absence of the vas deferens) result from the effects of CF on other parts of the body. Often, symptoms of CF appear in infancy and childhood; these include meconium ileus, failure to thrive, and recurrent lung infections.

CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTCR). The product of this gene is a chloride ion channel important in creating sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally. Therefore, CF is considered an autosomal recessive disease. The name cystic fibrosis refers to the characteristic 'fibrosis' (tissue scarring) of the biliary tract ("cystic" being a generic term for all that is related to the biliary vesicle and/or the bladder), first recognized in the 1930s.

Gene therapy holds promise as a potential avenue to cure cystic fibrosis

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