E72

Other disorders of amino-acid metabolism

disorders of:
aromatic amino-acid metabolism (E70.-)
branched-chain amino-acid metabolism (E71.0-E71.2)
fatty-acid metabolism (E71.3)
purine and pyrimidine metabolism (E79.-)
gout (M1A.-, M10.-)

E72.0

Disorders of amino-acid transport

disorders of tryptophan metabolism (E70.5)

E72.00

Disorders of amino-acid transport, unspecified

E72.01

Cystinuria

E72.02

Hartnup's disease

E72.03

Lowe's syndrome

E72.04

Cystinosis

Fanconi (-de Toni) (-Debré) syndrome without cystinosis (E72.09)

Fanconi (-de Toni) (-Debré) syndrome with cystinosis

E72.09

Other disorders of amino-acid transport

Fanconi (-de Toni) (-Debré) syndrome, unspecified

E72.1

Disorders of sulfur-bearing amino-acid metabolism

cystinosis (E72.04)
cystinuria (E72.01)
transcobalamin II deficiency (D51.2)

E72.10

Disorders of sulfur-bearing amino-acid metabolism, unspecified

E72.11

Homocystinuria

Cystathionine synthase deficiency

E72.12

Methylenetetrahydrofolate reductase deficiency

E72.19

Other disorders of sulfur-bearing amino-acid metabolism

Cystathioninuria
Methioninemia
Sulfite oxidase deficiency

E72.2

Disorders of urea cycle metabolism

disorders of ornithine metabolism (E72.4)

E72.20

Disorder of urea cycle metabolism, unspecified

hyperammonemia-hyperornithinemia-homocitrullinemia syndrome E72.4
transient hyperammonemia of newborn (P74.6)

Hyperammonemia

E72.21

Argininemia

E72.22

Arginosuccinic aciduria

E72.23

Citrullinemia

E72.29

Other disorders of urea cycle metabolism

E72.3

Disorders of lysine and hydroxylysine metabolism

glutaric aciduria type II (E71.313)
Refsum's disease (G60.1)
Zellweger syndrome (E71.510)

Glutaric aciduria NOS
Glutaric aciduria (type I)
Hydroxylysinemia
Hyperlysinemia

E72.4

Disorders of ornithine metabolism

hereditary choroidal dystrophy (H31.2-)

Hyperammonemia-Hyperornithinemia-Homocitrullinemia syndrome
Ornithinemia (types I, II)
Ornithine transcarbamylase deficiency

E72.5

Disorders of glycine metabolism

E72.50

Disorder of glycine metabolism, unspecified

E72.51

Non-ketotic hyperglycinemia

E72.52

Trimethylaminuria

E72.53

Primary hyperoxaluria

Oxalosis
Oxaluria

E72.59

Other disorders of glycine metabolism

D-glycericacidemia
Hyperhydroxyprolinemia
Hyperprolinemia (types I, II)
Sarcosinemia

E72.8

Other specified disorders of amino-acid metabolism

E72.81

Disorders of gamma aminobutyric acid metabolism

4-hydroxybutyric aciduria
Disorders of GABA metabolism
GABA metabolic defect
GABA transaminase deficiency
GABA-T deficiency
Gamma-hydroxybutyric aciduria
SSADHD
Succinic semialdehyde dehydrogenase deficiency

E72.89

Other specified disorders of amino-acid metabolism

Disorders of beta-amino-acid metabolism
Disorders of gamma-glutamyl cycle

E72.9

Disorder of amino-acid metabolism, unspecified