 E72 |
 |
Other disorders of amino-acid metabolism  |
| |
| Excludes1 |
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 |
| |
| Excludes1 |
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 |
| |
| UseAdditionalCode |
code for associated glaucoma (H42)
|
|
| | |
| E72.04 |
|
Cystinosis |
| |
| Fanconi (-de Toni) (-Debré) syndrome with cystinosis |
| Excludes1 |
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 |
| |
|
| |
| 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 |
| |
| Excludes1 |
disorders of ornithine metabolism (E72.4)
|
|
| |
| E72.20 |
|
Disorder of urea cycle metabolism, unspecified |
| |
| Hyperammonemia |
| Excludes1 |
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 |
| Excludes1 |
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 |
| Excludes1 |
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 |
| |
|
| | |
| 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 |
|