Respiratory chain complex in deficiency with pruritus: A novel vitamin responsive clinical feature

Journal of Pediatrics

Volumn 134, Issue 3, 1999, Pages 352-354

  Mowat, David ^a,b,c   Kirby, Denise M ^a,b,c   Kamath, K Ramanand ^a,b,c   Kan, Alex ^a,b,c   Thorburn, David R ^a,b,c   Christodoulou, John ^a,b,c  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; ASCORBIC ACID; MENADIONE;

ARTICLE; BILE ACID BLOOD LEVEL; CASE REPORT; CHILD; DISEASE ASSOCIATION; ENZYME ANALYSIS; GALLBLADDER SCINTISCANNING; HUMAN; LACTIC ACIDOSIS; LIVER BIOPSY; LIVER CIRRHOSIS; MALE; PRIORITY JOURNAL; PRURITUS; RESPIRATORY CHAIN; SEIZURE; VITAMIN SUPPLEMENTATION;

EID: 0033509087     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(99)70463-4     Document Type: Article

References (13)

1. 1. Shoffner J, Wallace D. Oxidative phosphorylation diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The molecular and metabolic bases of inherited disease. 7th ed. New York: McGraw Hill Inc; 1995. p. 1535-610.
2. 2. Munnich A, Rotig A, Chretien D, Saudubray J, Cormier V, Rustin P. Clinical presentations and laboratory investigations in respiratory chain deficiency. Eur J Pediatr 1996;155:262-74.
3. 3. Cormier-Daire V, Chretien D, Rustin P, Rofig A, Dubuisson C, Jaequemin E, et al. Neonatal and delayed -onset liver involvement in disorders of oxidative phosphorylation. J Pediatr 1997;817:817-22.
4. 4. Dubuisson C, Rustin P, Fabre M, Durand P, Bernard O. Mitochondrial respiratory chain disorders (MRCD) presenting as liver disease: diversity of clinical, biochemical and histological features. Abstract ESPGAN Munich 1996(O 31).
5. 31P-NMR follow-up study. Annals Neurol 1986;19:598-602.
6. 6. Hutterer F, Greim H, Trulzsch D, Czygan P, Schenkman J. Microsomal biotransformation system in cholestasis. Prog Liver Dis 1972;4:151-72.
7. 7. Radominska A, Treat S, Little J. Bile acid metabolism and the pathophysiology of cholestasis. Semin Liver Dis 1993;13:219-34.
8. 8. Chen J, and Farrell G. Bile acids produce a generalised reduction of the catalytic activity of cytochromes P450 and other hepatic microsomal enzymes in vitro: relevance to drug metabolism in experimental cholestasis. J Gastrol Hepat 1996;11:870-77.
9. 9. Azer S, Coverdale S, Byth K, Farrell G, Stacey N. Sequential changes in serum levels of individual bile acids in patients with chronic cholestatic liver disease. J Gastrenterol Hepatol 1996; 11:208-15.
10. 10. Kroemer G. The proto-oncogene Bcl-2 and its role in regulating apoptosis. Nature Med 1997;3:614-20.
11. 11. Krahenbuhl S, Talos C, Fischer S, Reichen J. Toxicity of bile acids on the electron transport chain of isolated rat liver mitochondria. Hepatol 1994;19:471-9.
12. 3 and C in a patient with a defect in electron transport at complex III in skeletal muscle. Proc Natl Acad Sci USA 1984;81:3529-33.
13. 13. Rahman S, Blok IL. Dahl M, Danks D, Kirby D, Chow C, et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996;39:55-63.