Conditions / Genetic
methylmalonic acidemia and homocysteinemia cblX type
info · Genetic
A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chrom
A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28.
Signs and symptoms
- Delayed CNS myelination
- Methylmalonic aciduria
- Methylmalonic acidemia
- Global developmental delay
- Seizure
- Microcephaly
- Short stature
- Hyperhomocystinemia
- Brachycephaly
- Intellectual disability
Also known as: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX; mental retardation, X-linked 3; methylmalonic aciduria with homocystinuria, type cblX