| http://purl.uniprot.org/diseases/5631 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive disorder characterized by poor feeding, difficulty breathing, abdominal distention, an abnormal carnitine profile, metabolic acidosis and hepatic failure in the neonatal period. Severe mtDNA depletion is observed in liver and muscle biopsies."xsd:string |