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Literature DB >> 3197737

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

K M Gibson¹, W L Nyhan, L Sweetman, K Narisawa, W Lehnert, P Divry, B H Robinson, K S Roth, F A Beemer, F J van Sprang.

Abstract

3-Methylglutaconic aciduria has been found in two distinct syndromes. In one there is deficient activity of 3-methylglutaconyl coenzyme A hydratase, and the only clinical manifestation observed has been retardation of speech development. In the other, which includes a majority of the patients studied, we document that the activity of this enzyme in fibroblast extracts is normal. The phenotype of this disorder is one of profound neurological impairment with retarded psychomotor development, hypotonicity and/or spasticity, convulsions or EEG abnormalities, and sensorineural changes in the eye and ear.

Entities: Disease Species

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Year: 1988 PMID： 3197737 DOI： 10.1007/bf00441821

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

13 in total

1. Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduria.

Authors: E A Haan; R D Scholem; J J Pitt; J E Wraith; G K Brown
Journal: Eur J Pediatr Date: 1987-09 Impact factor: 3.183

2. Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria.

Authors: K Narisawa; K M Gibson; L Sweetman; W L Nyhan; M Duran; S K Wadman
Journal: J Clin Invest Date: 1986-04 Impact factor: 14.808

3. Increased urinary excretion of 3-hydroxyisovaleric acid in patients with ketoacidosis.

Authors: S Landaas
Journal: Clin Chim Acta Date: 1974-07-15 Impact factor: 3.786

4. Transfer of carbon atoms from mevalonate to n-fatty acids.

Authors: J Edmond; G Popják
Journal: J Biol Chem Date: 1974-01-10 Impact factor: 5.157

5. Sex differences in the sterol and nonsterol metabolism of mevalonate.

Authors: M H Wiley; M M Howton; M D Siperstein
Journal: J Biol Chem Date: 1979-02-10 Impact factor: 5.157

6. Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism.

Authors: M Duran; F A Beemer; A S Tibosch; L Bruinvis; D Ketting; S K Wadman
Journal: J Pediatr Date: 1982-10 Impact factor: 4.406

7. 3-methylglutaconic aciduria: report on a sibship with infantile progressive encephalopathy.

Authors: J Greter; B Hagberg; G Steen; U Söderhjelm
Journal: Eur J Pediatr Date: 1978-12-01 Impact factor: 3.183

8. 3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.

Authors: W Lehnert; J Scharf; U Wendel
Journal: Eur J Pediatr Date: 1985-03 Impact factor: 3.183

9. Organic acids or urine in multiple sclerosis.

Authors: G Steen; L Ransnäs
Journal: Acta Neurol Scand Date: 1983-10 Impact factor: 3.209

10. 3-Methylglutaconic aciduria in two infants.

Authors: B Hagberg; O Hjalmarson; S Lindstedt; L Ransnäs; G Steen
Journal: Clin Chim Acta Date: 1983-10-31 Impact factor: 3.786

7 in total

1. 3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4').

Authors: D Chitayat; J Chemke; K M Gibson; O A Mamer; J B Kronick; J J McGill; B Rosenblatt; L Sweetman; C R Scriver
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982

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

1. Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduria.

2. Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria.

3. Increased urinary excretion of 3-hydroxyisovaleric acid in patients with ketoacidosis.

4. Transfer of carbon atoms from mevalonate to n-fatty acids.

5. Sex differences in the sterol and nonsterol metabolism of mevalonate.

6. Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism.

7. 3-methylglutaconic aciduria: report on a sibship with infantile progressive encephalopathy.

8. 3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.

9. Organic acids or urine in multiple sclerosis.

10. 3-Methylglutaconic aciduria in two infants.

1. 3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4').

2. 3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case.

3. 3-Methylglutaconic aciduria in a patient with a disturbed mitochondrial energy metabolism.

4. 3-Methylglutaconic aciduria with persistent metabolic acidosis and 'uncoupling episodes'.

5. 3-Methylglutaconic aciduria: neonatal onset with lactic acidosis.

6. Dilated cardiomyopathy with 3-methylglutaconic aciduria.

7. Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria.