nuclear type mitochondrial complex I deficiency 20

A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts th

A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3.

Signs and symptoms

• Decreased activity of mitochondrial complex I
• Hypertrophic cardiomyopathy
• Lactic acidosis
• Encephalopathy
• Stroke
• Hepatic failure
• Hypotonia
• Generalized hypotonia
• Cerebral edema
• Congestive heart failure

Also known as: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency; MC1DN20; mitochondrial complex 1 deficiency due to ACAD9 deficiency