Literature DB >> 6434840

Symptoms and signs in organic acidurias.

N J Brandt.   

Abstract

Organic acidaemias can present with a wide variety of signs and symptoms. A survey of the clinical presentation of the organic acidurias shows that single symptoms are not characteristic or diagnostic. Clinical awareness coupled with appropriate laboratory investigation is required for the correct diagnosis to be reached.

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Year:  1984        PMID： 6434840     DOI： 10.1007/bf03047369

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


  41 in total

1.  Pyruvate carboxylase deficiency and lactic acidosis in a retarded child without Leigh's disease.

Authors:  B M Atkin; N R Buist; M F Utter; A B Leiter; B Q Banker
Journal:  Pediatr Res       Date:  1979-02       Impact factor: 3.756

2.  L-glyceric aciduria. A new genetic variant of primary hyperoxaluria.

Authors:  H E Williams; L H Smith
Journal:  N Engl J Med       Date:  1968-02-01       Impact factor: 91.245

3.  A new patient with 4-hydroxybutyric aciduria, a possible defect of 4-aminobutyrate metabolism.

Authors:  P Divry; P Baltassat; M O Rolland; J Cotte; M Hermier; M Duran; S K Wadman
Journal:  Clin Chim Acta       Date:  1983-04-25       Impact factor: 3.786

4.  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

5.  Succinyl-CoA: 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy.

Authors:  J T Tildon; M Cornblath
Journal:  J Clin Invest       Date:  1972-03       Impact factor: 14.808

6.  Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis.

Authors:  A Munnich; J M Saudubray; A Cotisson; F X Coudĕ; H Ogier; C Charpentier; C Marsac; G Carrĕ; M Bourgeay-Causse; J Frĕzal
Journal:  Eur J Pediatr       Date:  1981-10       Impact factor: 3.183

7.  Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities.

Authors:  M A Guggenheim; E R McCabe; M Roig; S I Goodman; G M Lum; W W Bullen; S P Ringel
Journal:  Ann Neurol       Date:  1980-05       Impact factor: 10.422

8.  Hydroxymethylglutaryl CoA lyase deficiency: features resembling Reye syndrome.

Authors:  B H Robinson; J Oei; W G Sherwood; A H Slyper; J Heininger; O A Mamer
Journal:  Neurology       Date:  1980-07       Impact factor: 9.910

9.  Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide.

Authors:  A Niederwieser; B Steinmann; U Exner; F Neuheiser; U Redweik; M Wang; S Rampini; U Wendel
Journal:  Helv Paediatr Acta       Date:  1983-03

10.  On the enzymic defects in hereditary tyrosinemia.

Authors:  B Lindblad; S Lindstedt; G Steen
Journal:  Proc Natl Acad Sci U S A       Date:  1977-10       Impact factor: 11.205
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  2 in total

Review 1.  Biochemical relationships between Reye's and Reye's-like metabolic and toxicological syndromes.

Authors:  J Osterloh; W Cunningham; A Dixon; D Combest
Journal:  Med Toxicol Adverse Drug Exp       Date:  1989 Jul-Aug

2.  Defects of metabolism of fatty acids in the sudden infant death syndrome.

Authors:  A J Howat; M J Bennett; S Variend; L Shaw; P C Engel
Journal:  Br Med J (Clin Res Ed)       Date:  1985-06-15
  2 in total

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