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Literature DB >> 6085636

3-Hydroxy-3-methylglutaric aciduria.

C L Greene, H M Cann, B H Robinson, K M Gibson, L Sweetman, J Holm, W L Nyhan.

Abstract

3-Hydroxy-3-methylglutaric aciduria was found in a newborn infant whose parents are first cousins. The patient presented at 5 days of life with hyperammonemia, hypoglycemia, and metabolic acidosis. There was no ketonuria. Diagnosis was made by analysis of the pattern of organic acids excreted in the urine. A profound deficiency in activity of 3-hydroxy-3-methylglutaryl-coenzyme A lyase was found in cultured skin fibroblasts. The parents had intermediate levels of enzyme activity.

Entities: Chemical Disease Species

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Year: 1984 PMID： 6085636 DOI： 10.3109/01677068409107082

Source DB: PubMed Journal: J Neurogenet ISSN： 0167-7063 Impact factor: 1.250

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Cited

9 in total

1. 3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review.

Authors: S J Wysocki; R Hähnel
Journal: J Inherit Metab Dis Date: 1986 Impact factor: 4.982

2. HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

Authors: G A Mitchell; P T Ozand; M F Robert; L Ashmarina; J Roberts; K M Gibson; R J Wanders; S Wang; I Chevalier; E Plöchl; H Miziorko
Journal: Am J Hum Genet Date: 1998-02 Impact factor: 11.025

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

Authors: M Dasouki; D Buchanan; N Mercer; K M Gibson; J Thoene
Journal: J Inherit Metab Dis Date: 1987 Impact factor: 4.982

4. Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria by GC-MS and enzymology on cultured amniocytes and chorionic villi.

Authors: R A Chalmers; B M Tracey; J Mistry; T E Stacey; I R McFadyen
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

3-Hydroxy-3-methylglutaric aciduria.

1. 3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review.

2. HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

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

4. Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria by GC-MS and enzymology on cultured amniocytes and chorionic villi.

5. First trimester prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria.

6. 3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal.

Review 7. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.

8. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.

9. Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts.