Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.
Dahl
H H
HH
Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Parkville, Melbourne, Victoria, Australia.
Brown
G K
GK
D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005796:Genes; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D011596:Psychomotor Disorders / Q000201:enzymology / Q000235:genetics*; D011768:Pyruvate Dehydrogenase Complex / Q000737:chemistry / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000235:genetics*; D016415:Sequence Alignment; D012737:Sex Factors; D013045:Species Specificity; D014960:X Chromosome
D011768:Pyruvate Dehydrogenase Complex