Метилмалонова ацидемія з гомоцистинурією
ORPHA:26· ICD-10 E71.1· Methylmalonic acidemia with homocystinuria
Визначення(English summary)
A rare inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive, X-linked recessive
- Вік початку
- All ages