mitochondrial DNA depletion syndrome 8a

A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide r

A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22.

Signs and symptoms

• Proximal tubulopathy
• Lactic acidosis
• Axial hypotonia
• Progressive neurologic deterioration
• Aminoaciduria
• Gait ataxia
• Hypotonia
• Generalized hypotonia
• Failure to thrive
• Weight loss

Also known as: RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy