3-Hydroxy-3-methylglutaric aciduria: Response to carnitine therapy and fat and leucine restriction

Journal of Inherited Metabolic Disease

Volumn 10, Issue 2, 1987, Pages 142-146

  Dasouki, M ^a   Buchanan, D ^a   Mercer, N ^a   Gibson, K M ^b   Thoene, J ^a  

^a UNIVERSITY OF MICHIGAN   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE;

CASE REPORT; CENTRAL NERVOUS SYSTEM; COMA; CONGENITAL DISORDER; CYTOLOGY; DIET; FIBROBLAST CULTURE; HEREDITY; HUMAN; INFANT; METABOLIC ACIDOSIS; THERAPY;

ACIDOSIS; AMINO ACID METABOLISM, INBORN ERRORS; CARNITINE; DIETARY FATS; DIETARY PROTEINS; FEMALE; GLUTARATES; HUMANS; INFANT, NEWBORN; LEUCINE; MEGLUTOL; OXO-ACID-LYASES;

EID: 0023204259     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/BF01800039     Document Type: Article

References (18)

1. Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: Evidence for secondary insufficiency of l-carnitine
2. l-Carnitine insufficiency in disorders of organic acid metabolism: Response to l-carnitine by patients with methylmalonic aciduria and 3-hydroxy-3-methylglutaric aciduria
3. Intracellular localization of the 3-hydroxy-3-methylglutaryl coenzyme A cycle enzymes in liver
4. 3-hydroxy-3-methylglutaryl CoA lyase deficiency: Postnatal management following prenatal diagnosis by analysis of maternal urine
5. The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria
6. Patient with defect in leucine metabolism
7. 3-hydroxy-3-methylglutaric aciduria: a new assay of 3-hydroxy-3-methylglutaryl CoA layse using high performance liquid chromatography
8. 3-hydroxy-3-methylglutaric aciduria
9. Age-dependent excretion of 3-hydroxy-3-methlglutaric acid (HMG) and ketone bodies in the urine of full term and pre-term newborns
10. Gas chromatographic/mass spectrometric detection of 3-hydroxy-3-methylglutaryl CoA lyase deficiency in double first cousins
11. Hydroxymethylglutaryl CoA lyase deficiency: Features resembling Reye syndrome
12. Lethal hypoglycemia in a child with a deficiency of 3-hydroxy-3-methylglutaryl CoA-lyase
13. A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl CoA lyase deficiency
14. 3-hydroxy-3-methylglutaric aciduria: Deficiency of 3-hydroxy-3-methylglutaryl CoA lyase
15. 3-hydroxy-3-methylglutaric aciduria: 3-hydroxy-3-methylglutaryl-Coenzyme A lyase levels in leukocytes
16. 3-hydroxy-3-methylglutaric aciduria, combined with 3-methylglutaconic aciduria