Literature DB >> 499258

A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria.

W Lehnert, H Niederhoff, A Junker, H Saule, W Frasch.   

Abstract

During selective screening for organic acidurias, a 10-week-old girl with muscular hypotonia and recurrent fits was shown to be excreting 3-methylcrotonylglycin and 3-hydroxyisovaleric acid. Besides these metabolites of leucine the presence of small but pathological amounts of propionic and methylcitric acids were demonstrable in her urine, pointing to a defect in the metabolism of biotin. On treatment with biotin (2 x 5 mg/day) the convulsions stopped at once, her clinical condition improved gradually, and the abnormal metabolites disappeared from the urine. Within 6 weeks the child was discharged in a good general condition without apparent signs of neurological damage.

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Year:  1979        PMID： 499258     DOI： 10.1007/bf00447377

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


  14 in total

1.  Maple syrup urine disease.

Authors:  J DANCIS; M LEVITZ; S MILLER; R G WESTALL
Journal:  Br Med J       Date:  1959-01-10

2.  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

3.  Biotin-responsive beta-methylcrotonylglycinuria.

Authors:  D Gompertz; G H Draffan; J L Watts; D Hull
Journal:  Lancet       Date:  1971-07-03       Impact factor: 79.321

4.  Studies on the urinary acidic metabolites excreted by patients with beta-methylcrotonylglycinuria, propionic acidaemia and methylmalonic acidaemia, using gas-liquid chromatography and mass spectrometry.

Authors:  R A Chalmers; A M Lawson; R W Watts
Journal:  Clin Chim Acta       Date:  1974-03       Impact factor: 3.786

5.  Evidence for the enzymic defect in beta-methylcrotonylglycinuria.

Authors:  D Gompertz; P A Goodey; K Bartlett
Journal:  FEBS Lett       Date:  1973-05-15       Impact factor: 4.124

6.  Beta-methylcrotonyl-CoA carboxylase deficiency: a new metabolic error in leucine degradation.

Authors:  O Stokke; L Eldjarn; E Jellum; H Pande; P E Waaler
Journal:  Pediatrics       Date:  1972-05       Impact factor: 7.124

7.  The identification of tiglylglycine in the urine of a child with -methylcrotonylglycinuria.

Authors:  D Gompertz; G H Draffan
Journal:  Clin Chim Acta       Date:  1972-03       Impact factor: 3.786

8.  Excretion of 2-methyl-3-oxovaleric acid in propionic acidemia.

Authors:  W Lehnert; L Schuchmann; R Urbánek; H Niederhoff; N Böhm
Journal:  Eur J Pediatr       Date:  1978-07-03       Impact factor: 3.183

9.  Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria.

Authors:  L Sweetman; S P Bates; D Hull; W L Nyhan
Journal:  Pediatr Res       Date:  1977-11       Impact factor: 3.756

10.  Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with a deficiency of 3-methylcrotonyl-CoA carboxylase.

Authors:  M D Finnie; K Cottrall; J W Seakins; W Snedden
Journal:  Clin Chim Acta       Date:  1976-12       Impact factor: 3.786
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  10 in total

Review 1.  The biotin-dependent carboxylase deficiencies.

Authors:  B Wolf; G L Feldman
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025

2.  Determination of β-hydroxy-β-methylbutyrate concentration and enrichment in human plasma using chemical ionization gas chromatography tandem mass spectrometry.

Authors:  Dillon K Walker; John J Thaden; Agata Wierzchowska-McNew; Marielle P K J Engelen; Nicolaas E P Deutz
Journal:  J Chromatogr B Analyt Technol Biomed Life Sci       Date:  2016-11-09       Impact factor: 3.205

3.  Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.

Authors:  F A Beemer; K Bartlett; M Duran; H K Ghneim; S K Wadman; L Bruinvis; D Ketting
Journal:  Eur J Pediatr       Date:  1982-07       Impact factor: 3.183

4.  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

5.  Organic aciduria in neonatal multiple carboxylase deficiency.

Authors:  L Sweetman; W L Nyhan; N A Sakati; A Ohlsson; M S Mange; R B Boychuk; R Kaye
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

6.  Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.

Authors:  G L Feldman; Y E Hsia; B Wolf
Journal:  Am J Hum Genet       Date:  1981-09       Impact factor: 11.025

7.  Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.

Authors:  M E Saunders; W G Sherwood; M Duthie; L Surh; R A Gravel
Journal:  Am J Hum Genet       Date:  1982-07       Impact factor: 11.025

8.  Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency.

Authors:  T Suormala; H Wick; J P Bonjour; E R Baumgartner
Journal:  Eur J Pediatr       Date:  1985-05       Impact factor: 3.183

9.  Inherited disorders of 3-methylcrotonyl CoA carboxylation.

Authors:  J V Leonard; J W Seakins; K Bartlett; J Hyde; J Wilson; B Clayton
Journal:  Arch Dis Child       Date:  1981-01       Impact factor: 3.791

10.  Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency.

Authors:  S Packman; N M Caswell; H Baker
Journal:  Biochem Genet       Date:  1982-02       Impact factor: 1.890
  10 in total

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