mitochondrial complex V (ATP synthase) deficiency nuclear type 4A

A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movem

A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance.

Signs and symptoms

• Hyperammonemia
• Hyperprolinemia
• Hyperalaninemia
• Feeding difficulties
• Oroticaciduria
• Low plasma citrulline
• Failure to thrive
• Anemia
• Hyperglutamatemia
• Lactic acidosis

Also known as: MC5DN4A