title: Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.
abstract: Pyruvate dehydrogenase complex deficiency is a clinically heterogeneous disorder. Most cases are due to mutations in an X-linked PDHA1 gene encoding the E1alpha subunit of the multienzyme complex. Females with mutations in the PDHA1 gene may be asymptomatic or have a milder phenotype as a result of skewed X-inactivation, while males are typically more severely affected. We report a case of PDHA1 mosaicism in a male patient who had a milder phenotype.
authors.affiliation: Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Curtis R
authors.initials: CR
authors.lastname: Coughlin
authors.forename: Ian D
authors.initials: ID
authors.lastname: Krantz
authors.forename: Eric S
authors.initials: ES
authors.lastname: Schmitt
authors.forename: Shulin
authors.initials: S
authors.lastname: Zhang
authors.forename: Lee-Jun C
authors.initials: LJ
authors.lastname: Wong
authors.forename: Douglas S
authors.initials: DS
authors.lastname: Kerr
authors.forename: Jaya
authors.initials: J
authors.lastname: Ganesh
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D009030:Mosaicism; D020125:Mutation, Missense; D010641:Phenotype; D030481:Pyruvate Dehydrogenase (Lipoamide) / Q000172:deficiency* / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000201:enzymology* / Q000235:genetics*
chemical_list: D030481:Pyruvate Dehydrogenase (Lipoamide); C065640:pyruvate dehydrogenase E1alpha subunit