multiple mitochondrial dysfunctions syndrome 3

A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulf

A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42.

Signs and symptoms

• Elevated brain choline level by MRS
• Hypotonia
• Elevated lactate:pyruvate ratio
• Beta-aminoisobutyric aciduria
• Decreased activity of mitochondrial complex II
• Ventriculomegaly
• Lactic acidosis
• Cerebral atrophy
• Microcephaly
• Polyhydramnios

Also known as: IBA57 deficiency