Renal tubular dysfunction in multiple acyl-CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease

Volumn 20, Issue 4, 1997, Pages 604-605

  Morris, A A M ^a   Olpin, S E ^b   Van't Hoff, W G ^a   Johnson, A W ^a   Leonard, J V ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; BICARBONATE; FLAVOPROTEIN; GLUCOSE; GLUTARIC ACID;

ARTICLE; CASE REPORT; DEHYDRATION; DIETARY INTAKE; ENZYME DEFICIENCY; FEEDING DISORDER; FEMALE; HUMAN; HYPERCHLOREMIA; HYPOGLYCEMIA; INFANT; INTRAVENOUS DRUG ADMINISTRATION; KIDNEY TUBULE ABSORPTION; KIDNEY TUBULE DISORDER; LETHARGY; NEWBORN; NOSE FEEDING; URINARY EXCRETION;

ACIDOSIS, RENAL TUBULAR; ACYL-COA DEHYDROGENASES; AMINO ACID METABOLISM, INBORN ERRORS; FEMALE; GLUTARATES; HUMANS; INFANT; KIDNEY TUBULES;

EID: 0030760912     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005371428912     Document Type: Article

References (3)

1. Falik-Borenstein ZC, Jordan SC, Saudubray JM, et al (1992) Renal tubular acidosis in carnitine palmitoyltransferase type I deficiency. N Engl J Med 327: 24-27.
2. Frerman FE, Goodman SI (1995) Nuclear-encoded defects of the mitochondrial respiratory chain, including glutaric aciduria type JJ. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1611-1629.
3. 3H]-myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts. J Inher Metab Dis 13: 58-68.