Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.
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.
Coughlin
Curtis R
CR
Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Krantz
Ian D
ID
Schmitt
Eric S
ES
Zhang
Shulin
S
Wong
Lee-Jun C
LJ
Kerr
Douglas S
DS
Ganesh
Jaya
J
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*
D030481:Pyruvate Dehydrogenase (Lipoamide); C065640:pyruvate dehydrogenase E1alpha subunit