mitochondrial DNA depletion syndrome 13

A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the

A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16.

Signs and symptoms

• Encephalopathy
• Poor head control
• Type 2 muscle fiber predominance
• Hydrocephalus
• Leukodystrophy
• Hyperalaninemia
• Babinski sign
• Increased circulating lactate concentration
• Hydronephrosis
• Hyperkinetic movements

Also known as: FBXL4 deficiency; FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome; mitochondrial DNA depletion syndrome 13, encephalomyopathic type