Dr. K. Hungzhang Almannai
Program in Developmental Biology, Medical Scientist Training Program Baylor College
William P Daniel
Program in Developmental Biology, Medical Scientist Training Program Baylor College of Medicine Houston, Texas
Keywords:
MPV17, mtDNA, liver, Hepatic, hypoglycemia
Abstract
MPV17-related mitochondrial DNA (mtDNA) maintenance defect
presents in the vast majority of affected individuals as an early-onset
encephalohepatopathic (hepatocerebral) disease that is typically associated
with mtDNA depletion, particularly in the liver. A later-onset
neuromyopathic disease characterized by myopathy and neuropathy,
and associated with multiple mtDNA deletions in muscle, has also
rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic
form is characterized by: Hepatic manifestations
(liver dysfunction that typically progresses to liver failure, cholestasis,
hepatomegaly, and steatosis); Neurologic involvement (developmental
delay, hypotonia, microcephaly, and motor and sensory peripheral
neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility,
feeding difficulties, and failure to thrive); and Metabolic
derangements (lactic acidosis and hypoglycemia).
