Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism

Journal of Inherited Metabolic Disease

Volumn 21, Issue 8, 1998, Pages 864-866

  Burlina, A B ^a   Gibson, K M ^b   Ruitenbeek, W ^c   Bonafe L ^a   Bennett, M J ^d  

^a UNIVERSITY OF PADOVA   (Italy)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF TEXAS AT DALLAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYL COENZYME A ACYLTRANSFERASE; ISOLEUCINE;

ACIDURIA; ARTICLE; CASE REPORT; DEGENERATIVE DISEASE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ELECTRON TRANSPORT; ENERGY METABOLISM; ENZYME DEFICIENCY; HUMAN; LACTIC ACIDOSIS; MALE; METABOLIC ACIDOSIS; MUSCLE HYPOTONIA; NEWBORN; PHENOTYPE;

ACETYL-COA C-ACYLTRANSFERASE; AMINO ACID METABOLISM, INBORN ERRORS; CELLS, CULTURED; DICARBOXYLIC ACIDS; ENERGY METABOLISM; FIBROBLASTS; FUMARATES; HUMANS; INFANT; ISOLEUCINE; MALATES; MALE; NEURODEGENERATIVE DISEASES; PHENOTYPE; SUCCINIC ACID;

EID: 0031771022     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005426920116     Document Type: Article

References (4)

1. Bennett MJ, Sherwood WG, Gibson KM, Burlina AB (1993) Secondary inhibition of multiple NAD-requiring dehydrogenase in respiratory chain complex I deficiency: possible metabolic markers for the primary defect. J Inher Metab Dis 16: 560-562.
2. Gibson KM, Feigenbaum ASJ (1997) Phenotypically mild presentation in a patient with 2-methylacetoacetyl-coenzyme A (β-keto) thiolase deficiency. J Inher Metab Dis 20: 712-713.
3. Riudor E, Ribes A, Perez-Cerda C et al (1995) Metabolic coma with ketoacidosis and hyperglycaemiain 2-methylacetoacetyl-CoA thiolase deficiency. J Inher Metab Dis 18: 748-749.
4. Sweetman L, Williams JC (1995) Branched chain organic acidurias. In Scriver CR, Beaudet A, Sly WS, Valle DV, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw Hill, 1387-1422.