Метилмалонова ацидемія з гомоцистинурією, тип cblF
ORPHA:79284· ICD-10 E72.1· Methylmalonic acidemia with homocystinuria type cblF
Визначення(English summary)
cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood