Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of
amino acids.
Types
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Alkaptonuria
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Aspartylglucosaminuria
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Branched-chain keto acid dehydrogenase kinase deficiency
Branched-chain keto acid dehydrogenase kinase deficiency (BCKDK deficiency) is a disease resulting from mutations of the BCKDK gene. Patients with BCKDK deficiency have low levels of branched chain amino acids (BCAA) in their organism due to ac ...
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Methylmalonic acidemia
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Maple syrup urine disease
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. The condition gets its name from the distinctive sweet odor of affected infants' urine and ear ...
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Homocystinuria
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Tyrosinemia
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Trimethylaminuria
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Hartnup disease
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Biotinidase deficiency
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Ornithine carbamoyltransferase deficiency
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Carbamoyl-phosphate synthase I deficiency disease
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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 for ...
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Hyperargininemia
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Hyperhomocysteinemia
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Hypermethioninemia
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Hyperlysinemias
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Nonketotic hyperglycinemia
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Propionic acidemia
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Hyperprolinemia
Hyperprolinemia is a condition which occurs when the amino acid proline is not broken down properly by the enzymes proline oxidase or 1-Pyrroline-5-carboxylate dehydrogenase, pyrroline-5-carboxylate dehydrogenase, causing a buildup of proline in t ...
Amino acid transport disorders
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Cystinuria
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Dicarboxylic aminoaciduria
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Hartnup disease
Amino acid storage disorders
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Glutaric acidemia type 2
Glutaric acidemia type 2 is an autosomal recessive metabolic disorder that is characterised by defects in the ability of the body to use proteins and fats for energy. Incompletely processed proteins and fats can build up, leading to a dangerous c ...
References
External links
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