multiple mitochondrial dysfunctions syndrome 7

A multiple mitochondrial dysfunctions syndrome characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems that

A multiple mitochondrial dysfunctions syndrome characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems that has_material_basis_in homozygous or compound heterozygous mutation in the GCSH gene on chromosome 16q23.

Signs and symptoms

• Lethargy
• Exaggerated startle response
• Decreased liver function
• Dystonia
• Seizure
• Elevated brain lactate level by MRS
• Reduced brain N-acetyl aspartate level by MRS
• Myoclonic seizure
• Hyperglycemia
• Partial atrioventricular canal defect

Also known as: MMDS7