| Deficiency of galactose mutarotase (disorder) | | Deficiency of galactose mutarotase | | GALM (galactose mutarotase) deficiency
Galactosemia type 4
| | A rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. The natural history of the disease is unknown. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet. | | deficiëntie van galactosemutarotase | | galactosemie type 4
galactosemie door aldose-1-epimerasedeficiëntie
GALM-deficiëntie
galactosemie type IV
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| | Id | 1187616008 | | Status | Primitive |
| ICD-10 complex map reference set | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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