Dissecting the spectrum of fatty acid oxidation disorders

Journal of Pediatrics

Volumn 132, Issue 3 I, 1998, Pages 384-386

  Stanley, C A ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; CARNITINE PALMITOYLTRANSFERASE;

CONGENITAL MALFORMATION; DIETARY INTAKE; DISEASE ASSOCIATION; EDITORIAL; ENZYME DEFICIENCY; FAT INTAKE; FATTY ACID OXIDATION; HEART DISEASE; HUMAN; LIVER DISEASE; METABOLIC DISORDER; MUSCLE DISEASE; PRIORITY JOURNAL;

EID: 0031940965     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(98)70005-8     Document Type: Editorial

References (15)

1. CA Stanley Disorders of fatty acid metabolism 14th ed RE Behrman Nelson textbook of pediatrics 1992 WB Saunders Philadelphia 328 338
2. CR Roe PM Coates Mitochondrial fatty acid oxidation disorders VI ed CR Scriver AL Beaudet WS Sly D Valle The metabolic and molecular bases of inherited disease 1995 McGraw-Hill New York 1501 1534
3. AJIW Bergman RAMG Donckerwolcke M Duran JAM Smeitink B Mousson C Vianey-Saban Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency Pediatr Res 36 1994 582 588
4. CA Stanley S DeLeeuw PM Coates LC Vianey P Divry JP Bonnefont Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake Ann Neurol 30 1991 709 716
5. BS Andresen P Bross C Vianey-Saban P Divry MT Zabot CR Roe Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene Hum Mol Genet 5 1996 461 472
6. S DiMauro PMM DiMauro Muscle carnitine palmitoyltransferase deficiency and myoglobinuria Science 182 1973 929 931
7. L Ijlst RJA Wanders S Ushikubo T Kamijo T Hashimoto Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein Biochim Biophys Acta 1215 1994 347 350
8. PM Coates DE Hale G Finocchiaro K Tanaka SC Winter Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness J Clin Invest 81 1988 171 175
9. MJ Bennett MJ Weinberger JA Kobori P Rinaldo AB Burlina Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation Pediatr Res 39 1996 185 188
10. FE Frerman SI Goodman Nuclear- encoded defects of the mitochondrial respiratory chain, including glutaric acidemia type II CR Scriver AL Beaudet WS Sly D Valle The metabolic and molecular basis of inherited disease 1995 McGraw-Hill New York 1611 1630
11. WR Treem P Rinaldo DE Hale CA Stanley DS Millington JS Hyams Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Hepatology 19 1994 339 345
12. AAM Morris SE Olpin M Brivet DM Turnbull RAK Jones JV Leonard A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype J Pediatr 132 1998 514 516
13. P Rinaldo CA Stanley BYL Hsu LA Sanchez HJ Stern Sudden neonatal death in carnitine transporter deficiency J Pediatr 131 1997 304 305
14. R Ziadeh EP Hoffman DM Finegold RC Hoop JC Brackett AW Strauss Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies Pediatr Res 37 1995 675 678
15. C Indiveri V Iacobazzi N Giangregorio F Palmieri The mitochondrial carnitine carrier protein: cDNA cloning, primary structure and comparison with other mitochondrial transport proteins Biochem J 321 1997 713 719