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Congenital Disorders Of Amino Acid Metabolism
Congenital errors of amino acid metabolism are inherited metabolic disorders that impair the synthesis and degradation of amino acids. This means that the body has trouble breaking down and building some amino acids, the building blocks of protein in the body. The body can also have trouble with cellular update up amino acids. There are many different disorders in this classification and it can manifest in different ways. Many of these disorders result in the buildup of amino acids in the body which can be harmful and sometimes life threatening. Many of these disorders are part of newborn screening blood tests to ensure an early diagnosis and appropriate treatment for best possible outcomes. Types * Alkaptonuria * Aspartylglucosaminuria * Branched-chain keto acid dehydrogenase kinase deficiency * Methylmalonic acidemia * Maple syrup urine disease * Homocystinuria * Tyrosinemia * Trimethylaminuria * Hartnup disease * Biotinidase deficiency * Ornithine carbamoyltransferase deficie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Amino Acid
Amino acids are organic compounds that contain both amino and carboxylic acid functional groups. Although over 500 amino acids exist in nature, by far the most important are the 22 α-amino acids incorporated into proteins. Only these 22 appear in the genetic code of life. Amino acids can be classified according to the locations of the core structural functional groups ( alpha- , beta- , gamma- amino acids, etc.); other categories relate to polarity, ionization, and side-chain group type ( aliphatic, acyclic, aromatic, polar, etc.). In the form of proteins, amino-acid '' residues'' form the second-largest component (water being the largest) of human muscles and other tissues. Beyond their role as residues in proteins, amino acids participate in a number of processes such as neurotransmitter transport and biosynthesis. It is thought that they played a key role in enabling life on Earth and its emergence. Amino acids are formally named by the IUPAC- IUBMB Joint Commi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Dicarboxylic Aminoaciduria
Dicarboxylic aminoaciduria is a rare form of aminoaciduria (1:35 000 births) which is an autosomal recessive disorder of urinary glutamate and aspartate due to genetic errors related to transport of these amino acids. Mutations resulting in a lack of expression of the ''SLC1A1'' gene, a member of the solute carrier family, are found to cause development of dicarboxylic aminoaciduria in humans. SLC1A1 encodes for Excitatory amino-acid transporter, EAAT3 which is found in the neurons, intestine, kidney, lung, and heart. Excitatory amino-acid transporter, EAAT3 is part of a family of high affinity glutamate transporters which transport both glutamate and aspartate across the plasma membrane. Symptoms and signs Dicarboxylic aminoaciduria involves excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. This affects a diseased individual's amino acid pool, as they will have to spend addi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Cystinuria
Cystinuria is an inherited autosomal recessive disease characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureters, and bladder. It is a type of aminoaciduria. "Cystine", not "cysteine," is implicated in this disease; the former is a dimer of the latter. Presentation Cystinuria is a cause of recurrent kidney stones. It is a disease involving the defective transepithelial transport of cystine and dibasic amino acids in the kidney and intestine and is one of many causes of kidney stones. If not treated properly, the disease could cause serious damage to the kidneys and surrounding organs, and in some rare cases death. The stones may be identified by a positive nitroprusside cyanide test. The crystals are usually hexagonal, translucent, and white. Upon removal, the stones may be pink or yellow, but later they turn greenish due to exposure to air. Cystinuria is usually asymptomatic when no stone ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Hyperprolinemia
Hyperprolinemia is a condition which occurs when the amino acid proline is not broken down properly by the enzymes proline oxidase or pyrroline-5-carboxylate dehydrogenase, causing a buildup of proline in the body. Presentation The clinical features of hyperprolinemia are unclear. Nephropathy, uncontrolled seizures, intellectual disabilities, and schizophrenia have been reported in hyperprolinemia I (mutation of PRODH gene), but a benign phenotype without neurological problems has also been reported. An evidence suggests that hyperprolinemia II (mutation of ALDH4A1 gene) might reduce the threshold for convulsions, thereby increasing the sensitivity of individuals with influenza-associated encephalopathy. Severity and manifestations of hyperprolinemia depending on the nature and number of hits affecting the gene locus. Genetics Mutations in the '' ALDH4A1'' and '' PRODH'' genes cause hyperprolinemia. Hyperprolinemia type I is caused by a mutation in the ''PRODH'' gene, which ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Propionic Acidemia
Propionic acidemia, also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), is a rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia. The disorder presents in the early neonatal period with poor feeding, vomiting, lethargy, and lack of muscle tone. Without treatment, death can occur quickly, due to secondary hyperammonemia, infection, cardiomyopathy, or brain damage. Symptoms and signs Propionic acidemia can vary in severity. Severe propionic acidemia lead to symptoms already seen in newborns. Symptoms include poor feeding, vomiting, dehydration, acidosis, low muscle tone (hypotonia), seizures, and lethargy. The effects of propionic acidemia quickly become life-threatening. Long-term complications can include intellectual disability, autism, chronic kidney disease, cardiomyopathy, and prolonged QTc interval. Pathophysiology In healthy individuals, enzyme propionyl-CoA carboxylase converts propiony ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Hyperlysinemias
Hyperlysinemia is an autosomal recessive metabolic disorder characterized by an abnormal increase of lysine in the blood, but appears to be benign. It is caused by mutations in '' AASS'', which encodes α-aminoadipic semialdehyde synthase. Hyperlysinemia is associated with ectopia lentis (a displacement or malposition of the eye's crystalline lens) in humans. Signs and symptoms While hyperlysinemia typically causes no health problems, patients may exhibit behavioral abnormalities, delayed speech and language development, infantile hypotonia, intellectual disability, microcephaly, neurodevelopmental delay, psychomotor retardation, seizures, short attention spans, and short stature. Genetics Hyperlysinemia is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Hypermethioninemia
Hypermethioninemia is an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. Presentation Genetics Hypermethioninemia can have different inheritance patterns. This condition is usually inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder. Hypermethioninemia is occasionally inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, an affected person usually has one parent with the condition. Pathophysiology Inherited hypermethioninemia that is not associated with other metabolic disorders can be caused by shortages in the enzymes that break down methionine. These enzymes are produced from ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Hyperhomocysteinemia
Hyperhomocysteinemia is a medical condition characterized by an abnormally high level of total homocysteine (that is, including homocystine and homocysteine-cysteine disulfide) in the blood, conventionally described as above 15 μmol/L. As a consequence of the biochemical reactions in which homocysteine is involved, deficiencies of vitamin B6, folic acid (vitamin B9), and vitamin B12 can lead to high homocysteine levels. Other possible causes of hyperhomocysteinemia include genetics, excessive methionine intake, and other diseases. Hyperhomocysteinemia is typically managed with vitamin B6, vitamin B9 and vitamin B12 supplementation. Hyperhomocysteinemia is a risk factor for cardiovascular disease; supplements of these vitamins may slightly reduce stroke outcome but not myocardial infarction, death from any cause or adverse events. Signs and symptoms Elevated levels of homocysteine have been associated with a number of disease states: more than 100 adverse outcomes have ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Hyperargininemia
Argininemia is an autosomal recessive urea cycle disorder where a deficiency of the enzyme arginase causes a buildup of arginine and ammonia in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high; the nervous system is especially sensitive to the effects of excess ammonia.update 2014 Signs and symptoms The presentation of argininemia, in those that are affected, is consistent with the following: Genetics Mutations in the ''ARG1'' gene cause argininemia, which belongs to a class of genetic diseases called urea cycle disorders.update 2015 The urea cycle is a sequence of reactions that occurs in liver cells (hepatocytes). This cycle processes excess nitrogen, generated when protein is used by the body, making urea that is excreted via the kidneys. The ''ARG1'' gene provides instructions for making an enzyme called arginase, this enzyme controls the last steps of the urea cycle, which produces urea by extracting nitrog ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Citrullinemia
Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . Two forms of citrullinemia have been described, both having different signs and symptoms, and are caused by mutations in different genes. Citrullinemia belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of chemical reactions taking place in the liver. These reactions process excess nitrogen, generated when protein is used for energy by the body, to make urea, which is excreted by the kidneys. Signs and symptoms Cause Diagnosis Type I 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 develop a lack of energy (lethargy), poor feeding, vomitin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
