Literature DB >> 3128690

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

K M Gibson1, J Breuer, K Kaiser, W L Nyhan, E E McCoy, P Ferreira, C L Greene, M G Blitzer, E Shapira, F Reverte.   

Abstract

Five new patients are reported and the pathogenesis of the hypoglycaemia without ketogenesis is discussed. This report extends a recent review.

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Year:  1988        PMID： 3128690     DOI： 10.1007/bf01800058

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  14 in total

1.  Letter: Patient with defect in leucine metabolism.

Authors:  K Faull; P Bolton; B Halpern; J Hammond; D M Danks; R Hähnel; S P Wilkinson; S J Wysocki; P L Masters
Journal:  N Engl J Med       Date:  1976-04-29       Impact factor: 91.245

2.  Cerebral blood flow and exchange of oxygen, glucose, ketone bodies, lactate, pyruvate and amino acids in infants.

Authors:  G Settergren; B S Lindblad; B Persson
Journal:  Acta Paediatr Scand       Date:  1976-05

3.  Occurrence of hyperammonemia in the course of 17 cases of methylmalonic acidemia.

Authors:  L Cathelineau; P Briand; H Ogier; C Charpentier; F X Coude; J M Saudubray
Journal:  J Pediatr       Date:  1981-08       Impact factor: 4.406

4.  Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Authors:  H Y Zoghbi; J E Spence; A L Beaudet; W E O'Brien; C J Goodman; K M Gibson
Journal:  Ann Neurol       Date:  1986-09       Impact factor: 10.422

5.  3-Hydroxy-3-methylglutaric aciduria.

Authors:  C L Greene; H M Cann; B H Robinson; K M Gibson; L Sweetman; J Holm; W L Nyhan
Journal:  J Neurogenet       Date:  1984-04       Impact factor: 1.250

6.  Dizygotic twins with 3-hydroxy-3-methylglutaric aciduria; unusual presentation, family studies and dietary management.

Authors:  T E Stacey; C de Sousa; B M Tracey; A Whitelaw; J Mistry; P Timbrell; R A Chalmers
Journal:  Eur J Pediatr       Date:  1985-07       Impact factor: 3.183

7.  Acetoacetyl CoA thiolase deficiency presenting as ketotic hypoglycemia.

Authors:  J V Leonard; B Middleton; J W Seakins
Journal:  Pediatr Res       Date:  1987-02       Impact factor: 3.756

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

Authors:  O Sovik; L Sweetman; K M Gibson; W L Nyhan
Journal:  Am J Hum Genet       Date:  1984-07       Impact factor: 11.025

9.  L-Carnitine insufficiency in disorders of organic acid metabolism: response to L-carnitine by patients with methylmalonic aciduria and 3-hydroxy-3-methylglutaric aciduria.

Authors:  R A Chalmers; T E Stacey; B M Tracey; C de Sousa; C R Roe; D S Millington; C L Hoppel
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

10.  Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria.

Authors:  W Weyler; L Sweetman; D C Maggio; W L Nyhan
Journal:  Clin Chim Acta       Date:  1977-05-02       Impact factor: 3.786
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  17 in total

1.  The contribution of protein catabolism to metabolic decompensation in 3-hydroxy-3-methylglutaric aciduria.

Authors:  G N Thompson; R A Chalmers; D Halliday
Journal:  Eur J Pediatr       Date:  1990-02       Impact factor: 3.183

2.  3-Hydroxy-3-methylglutaric aciduria in Portuguese population.

Authors:  L Vilarinho; M L Cardoso; D Rabier; M O Rolland
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

3.  Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria.

Authors:  H Ibel; W Endres; H B Hadorn; T Deufel; I Paetzke; M Duran; N G Kennaway; K M Gibson
Journal:  Eur J Pediatr       Date:  1993-08       Impact factor: 3.183

4.  A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Authors:  J Pié; N Casals; C H Casale; C Buesa; C Mascaró; A Barceló; M O Rolland; T Zabot; D Haro; F Eyskens; P Divry; F G Hegardt
Journal:  Biochem J       Date:  1997-04-15       Impact factor: 3.857

5.  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

6.  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

7.  3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.

Authors:  S W Moses; M Aviram; R Geiger; R Berger; P C Smit
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

8.  Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Authors:  K M Gibson; S B Cassidy; L H Seaver; R J Wanders; N G Kennaway; G A Mitchell; R P Spark
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

9.  3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.

Authors:  Tülin Köksal; Mehmet Gündüz; Eda Özaydın; Emine Azak
Journal:  Indian J Pediatr       Date:  2015-02-25       Impact factor: 1.967

10.  3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia.

Authors:  P T Ozand; A al Aqeel; G Gascon; J Brismar; E Thomas; H Gleispach
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
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