Conditions / Genetic
methylmalonic aciduria and homocystinuria type cblF
info · Genetic
A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozyg
A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13.
Signs and symptoms
- Hyperhomocystinemia
- Methylmalonic acidemia
- Methylmalonic aciduria
- Epicanthus
- Lethargy
- Hypotonia
- Cystathioninuria
- Generalized hypotonia
- Failure to thrive
- Microtia
Also known as: Cobalamin F deficiency; MAHCF