combined oxidative phosphorylation deficiency 12

A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosom

A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2.

Signs and symptoms

• Poor head control
• Hypotonia
• Elevated circulating alanine aminotransferase concentration
• Elevated circulating alpha-fetoprotein concentration
• Lactic acidosis
• Elevated circulating aspartate aminotransferase concentration
• Decreased activity of mitochondrial complex III
• Decreased activity of mitochondrial complex I
• Decreased activity of mitochondrial complex IV
• Global developmental delay

Also known as: COXPD12; LTBL; leukoencephalopathy with thalamus and brainstem involvement and high lactate; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome