multiple mitochondrial dysfunctions syndrome 2

A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_

A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13.

Signs and symptoms

• Lethargy
• Seizure
• Hepatomegaly
• Hyperhidrosis
• Decreased activity of mitochondrial complex II
• Lactic acidosis
• Dilated cardiomyopathy
• Respiratory distress
• Decreased activity of mitochondrial complex III
• Hyperglycinemia

Also known as: BOLA3 deficiency; multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia