Pyruvate dehydrogenase E3 binding protein (protein X) deficiency

Pyruvate dehydrogenase (PDH) deficiency is a major cause of neurological dysfunction and lactic acidosis in infancy and early childhood. The great majority of cases (>80%) result from mutations in the X-linked gene for the E1α subunit of the complex (PDHA1). Mutations in the genes for the other s...

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Veröffentlicht in:	Developmental medicine and child neurology 2006-09, Vol.48 (9), p.756-760
Hauptverfasser:	Brown, RM, Head, RA, Morris, AAM, Raiman, JAJ, Walter, JH, Whitehouse, WP, Brown, GK
Format:	Artikel
Sprache:	eng
Schlagworte:	Brain Child Child, Preschool Developmental Delays Developmental Stages DNA Mutational Analysis Expressive Language Female Humans Infant Male Males Original Articles Parents Patients Pregnancy Protein Subunits - deficiency Protein Subunits - genetics Pyruvate Dehydrogenase Complex - genetics Pyruvate Dehydrogenase Complex - metabolism Pyruvate Dehydrogenase Complex Deficiency Disease - diagnosis Pyruvate Dehydrogenase Complex Deficiency Disease - genetics Pyruvate Dehydrogenase Complex Deficiency Disease - metabolism Seizures Severity of Illness Index Vision Visual Impairments Young Children
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