title: Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy.
abstract: We present a 4-year-old male suffering from profound muscular weakness, enzymatically undefined glycogen storage disease. Fanconi nephropathy and impaired galactose utilization. Distorted mitochondria, intramitochondrial fat droplets and partial deficiencies of pyruvate dehydrogenase complex, succinate: cytochrome c oxidoreductase, and cytochrome c oxidase have been found in muscle tissue. The causal relationship between mitochondrial myopathy, glycogen storage disease, Fanconi nephropathy and impaired utilization of galactose is discussed.
authors.affiliation: Department of Paediatrics, Bikur-Cholim Hospital, Jerusalem, Israel.
authors.forename: H
authors.initials: H
authors.lastname: Hurvitz
authors.forename: O N
authors.initials: ON
authors.lastname: Elpeleg
authors.forename: V
authors.initials: V
authors.lastname: Barash
authors.forename: E
authors.initials: E
authors.lastname: Kerem
authors.forename: R M
authors.initials: RM
authors.lastname: Reifen
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
authors.forename: C
authors.initials: C
authors.lastname: Mor
authors.forename: D
authors.initials: D
authors.lastname: Branski
mesh_terms: D002675:Child, Preschool; D005198:Fanconi Syndrome / Q000150:complications*; D005690:Galactose / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000150:complications*; D006801:Humans; D008297:Male; D008929:Mitochondria, Heart / Q000201:enzymology* / Q000648:ultrastructure
chemical_list: D005690:Galactose