Conditions / Genetic
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
info · Genetic
A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13.
Signs and symptoms
- Bone marrow maturation arrest
- Global developmental delay
- Increased CSF lactate
- 3-Methylglutaconic aciduria
- Cerebellar atrophy
- Decreased total neutrophil count
- Cerebral atrophy
- Hypotonia
- Neonatal hypotonia
- Microcephaly
Also known as: 3-methylglutaconic aciduria type 7; 3-methylglutaconic aciduria type VII; MEGCANN; MGA7; MGCA7