Category: E72 - Other disorders of amino-acid metabolism

 Chapter Notes

 Section Notes

 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

Use additional code for associated glaucoma (H42)

 E72.04

Cystinosis

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

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

 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

hyperammonemia-hyperornithinemia-homocitrullinemia syndrome E72.4

transient hyperammonemia of newborn (P74.6)

 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 NOS

Glutaric aciduria (type I)

Hydroxylysinemia

Hyperlysinemia

glutaric aciduria type II (E71.313)

Refsum's disease (G60.1)

Zellweger syndrome (E71.510)

 E72.4

Disorders of ornithine metabolism

Hyperammonemia-Hyperornithinemia-Homocitrullinemia syndrome

Ornithinemia (types I, II)

Ornithine transcarbamylase deficiency

hereditary choroidal dystrophy (H31.2-)

 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