Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia

Journal of Inherited Metabolic Disease

Volumn 26, Issue 5, 2003, Pages 505-506

  Hargreaves, I P ^a   Heales, S J R ^a   Briddon, A ^a   Lee, P J ^a   Hanna, M G ^b   Land, J M ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; BINDING PROTEIN; BRANCHED CHAIN AMINO ACID; GUANINE; LACTIC ACID; PYRUVATE DEHYDROGENASE; PYRUVIC ACID; TYROSINE;

ADULT; AMINO ACID SUBSTITUTION; AMINOACIDEMIA; ARTICLE; ARTIFICIAL VENTILATION; ATAXIA; BIOCHEMISTRY; BLOOD ANALYSIS; BRAIN INJURY; CASE REPORT; COGNITIVE DEFECT; ENCEPHALOMYOPATHY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EPILEPTIC STATE; FIBROBLAST CULTURE; GENE SEQUENCE; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HYPERALANINEMIA; HYPERLACTATEMIA; MALE; MOTOR DYSFUNCTION; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING;

EID: 0042829457     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1025181512847     Document Type: Article

References (2)

1. Brown GK, Haan EA, Kirby DM, et al (1988) 'Cerebral' lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis. Eur J Pediatr 147: 10-14.
2. Brown RM, Head RA, Brown GK (2002) Pyruvate dehydrogenase E3 binding protein deficiency. Hum Genet 110: 187-191.