Congenital disorders of amino acid metabolism

Medical condition

Congenital disorders of amino acid metabolism

The general structure of an α-amino acid, with the amino group on the left and the carboxyl group on the right
Specialty| Endocrinology

Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of amino acids.

## Types

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* Alkaptonuria
* Aspartylglucosaminuria
* Branched-chain keto acid dehydrogenase kinase deficiency
* Methylmalonic acidemia
* Maple syrup urine disease
* Homocystinuria
* Tyrosinemia
* Trimethylaminuria
* Hartnup disease
* Biotinidase deficiency
* Ornithine carbamoyltransferase deficiency
* Carbamoyl-phosphate synthase I deficiency disease
* Citrullinemia
* Hyperargininemia
* Hyperhomocysteinemia
* Hypermethioninemia
* Hyperlysinemias
* Nonketotic hyperglycinemia
* Propionic acidemia
* Hyperprolinemia

## Amino acid transport disorders

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* Cystinuria
* Dicarboxylic aminoaciduria
* Hartnup disease

## Amino acid storage disorders

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* Glutaric acidemia type 2

## References

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## External links

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Classification|

* ICD-10: E70-E72
* ICD-9-CM: 270
* MeSH: D000592

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Inborn error of amino acid metabolism

K→acetyl-CoA|

| Lysine/straight chain|

* Glutaric acidemia type 1
* type 2
* Hyperlysinemia
* Pipecolic acidemia
* Saccharopinuria

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Leucine|

* 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
* 3-Methylcrotonyl-CoA carboxylase deficiency
* 3-Methylglutaconic aciduria 1
* Isovaleric acidemia
* Maple syrup urine disease

Tryptophan|

* Hypertryptophanemia

| G→pyruvate→citrate|

| Glycine|

* D-Glyceric acidemia
* Glutathione synthetase deficiency
* Sarcosinemia

* Glycine→Creatine: GAMT deficiency
* Glycine encephalopathy

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G→glutamate→
α-ketoglutarate|

| Histidine|

* Carnosinemia
* Histidinemia
* Urocanic aciduria

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Proline|

* Hyperprolinemia
* Prolidase deficiency

Glutamate/glutamine|

* SSADHD

G→propionyl-CoA→
succinyl-CoA|

| Valine|

* Hypervalinemia
* Isobutyryl-CoA dehydrogenase deficiency
* Maple syrup urine disease

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Isoleucine|

* 2-Methylbutyryl-CoA dehydrogenase deficiency
* Beta-ketothiolase deficiency
* Maple syrup urine disease

Methionine|

* Cystathioninuria
* Homocystinuria
* Hypermethioninemia

General BC/OA|

* Methylmalonic acidemia
* Methylmalonyl-CoA mutase deficiency
* Propionic acidemia

G→fumarate|

| Phenylalanine/tyrosine|

| Phenylketonuria|

* 6-Pyruvoyltetrahydropterin synthase deficiency
* Tetrahydrobiopterin deficiency

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Tyrosinemia|

* Alkaptonuria/Ochronosis
* Tyrosinemia type I
* Tyrosinemia type II
* Tyrosinemia type III/Hawkinsinuria

Tyrosine→Melanin|

* Albinism: Ocular albinism (1)
* Oculocutaneous albinism (Hermansky–Pudlak syndrome)
* Waardenburg syndrome

Tyrosine→Norepinephrine|

* Dopamine beta hydroxylase deficiency
* reverse: Brunner syndrome

G→oxaloacetate|

| Urea cycle/Hyperammonemia
(arginine

* aspartate)

* Argininemia
* Argininosuccinic aciduria
* Carbamoyl phosphate synthetase I deficiency
* Citrullinemia
* N-Acetylglutamate synthase deficiency
* Ornithine transcarbamylase deficiency/translocase deficiency

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Transport/
IE of RTT|

* Solute carrier family: Cystinuria
* Hartnup disease
* Iminoglycinuria
* Lysinuric protein intolerance

* Fanconi syndrome: Oculocerebrorenal syndrome
* Cystinosis

Other|

* 2-Hydroxyglutaric aciduria
* Aminoacylase 1 deficiency
* Ethylmalonic encephalopathy
* Fumarase deficiency
* Trimethylaminuria

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