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.

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

## Contents

* 1 Types
* 2 Amino acid transport disorders
* 3 Amino acid storage disorders
* 4 References
* 5 External links

## 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 deficiency
* Carbamoyl-phosphate synthase I deficiency disease
* Citrullinemia
* Hyperargininemia
* Hyperhomocysteinemia
* Hypermethioninemia
* Hyperlysinemias
* Nonketotic hyperglycinemia
* Propionic acidemia
* Hyperprolinemia

## Amino acid transport disorders

* Cystinuria
* Dicarboxylic aminoaciduria
* Hartnup disease

## Amino acid storage disorders

* Glutaric acidemia type 2

## References

## External links

Classification|

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

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* v
* t
* e

Inborn error of amino acid metabolism (E70–E72, 270)

[[Chemistry:Ketogenic amino K→acetyl-CoA]]|

| Lysine/straight chain|

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

|

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

|

G→glutamate→
α-ketoglutarate|

| Histidine|

* Carnosinemia
* Histidinemia
* Urocanic aciduria

|

Proline|

* Hyperprolinemia
* Prolidase deficiency

Glutamate/glutamine|

* SSADHD

G→propionyl-CoA→
succinyl-CoA|

| Valine|

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

|

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|

| [[Chemistry:PhenylPhenylalanine]]/tyrosine|

| Phenylketonuria|

* 6-Pyruvoyltetrahydropterin synthase deficiency
* Tetrahydrobiopterin deficiency

|

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

|

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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