Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect

Journal of Inherited Metabolic Disease

Volumn 20, Issue 6, 1997, Pages 835-836

  Grunewald S ^a   Bakkeren, J ^b   Wanders, R A ^c   Wendel, U ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

LACTIC ACID; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN; PROTEIN; PYRUVIC ACID; UNCLASSIFIED DRUG;

ARTICLE; AUTOPSY; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; FATALITY; FATTY ACID OXIDATION; FEMALE; HEART ARREST; HEART ARRHYTHMIA; HEART DILATATION; HUMAN; KIDNEY FAILURE; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; MALE; METABOLIC ACIDOSIS; NEUROLOGIC DISEASE; NEWBORN; OXIDATIVE PHOSPHORYLATION; PERFUSION; PERITONEAL DIALYSIS; PROTEIN DEFICIENCY; RESPIRATORY CHAIN;

AMMONIA; CARDIOMYOPATHY, DILATED; ELECTRON TRANSPORT; FATAL OUTCOME; FEMALE; HUMANS; HYPOGLYCEMIA; INFANT, NEWBORN; KETONES; LACTIC ACID; MALE; MULTIENZYME COMPLEXES; NETHERLANDS; TURKEY;

EID: 0030828147     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005340322558     Document Type: Article

References (6)

1. Dionisi-Vici C, Garavaglia B, Burlina AB et al (1996) Hypoparathyroidism in mitochondrial trifunctional protein deficiency. J Pediatr 129: 159-162.
2. Duran M, Wanders RJA, de Jager JP et al (1991) 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment. Eur J Pediatr 150: 190-195.
3. Jackson S, Kler RS, Bartlett K et al (1992) Combined enzyme defect of mitochondrial fatty acid oxidation. J Clin Invest 90: 1219-1225.
4. Sewell AC, Bender SW, Wirth S et al (1994) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder. Eur J Pediatr 153: 745-750.
5. Ventura FV, Ruiter JPN, Ijlst L, Tavares de Ahneida I, Wanders RJA (1996) Inhibitory effect of 3-hydroxyacyl-CoAs and other long-chain fatty acid β-oxidation intermediates on mitochondrial oxidative phosphorylation. J Inher Metab Dis 19: 161-164.
6. Wanders RJA, Ijlst L, Poggi F et al (1992) Human trifunctional protein deficiency, a new disorder of mitochondrial fatty acid β-oxidation. Biochem Biophys Res Commun 118: 1139-1145.