combined malonic and methylmalonic acidemia

An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or

An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3.

Signs and symptoms

• Diarrhea
• Ketoacidosis
• Vomiting
• Failure to thrive
• Global developmental delay
• Methylmalonic aciduria
• Dehydration
• Generalized clonic seizure

Also known as: CMAMMA; combined malonic and methylmalonic aciduria