3-methylglutaconic aciduria type 7a

A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB

A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13.

Signs and symptoms

• Delayed speech and language development
• Global developmental delay
• 3-Methylglutaconic aciduria
• Hypotonia
• Decreased total neutrophil count
• Secondary microcephaly
• Anemia
• Atypical absence seizure
• Cerebellar atrophy
• Abnormal periventricular white matter morphology