Literature DB >> 962376

Organic aciduria. Treatable cause of floppy infant syndrome.

B R Keeton.   

Abstract

A floppy infant is described who has an inborn error of organic acid metabolism due to defective activity of the enzyme beta-methylcrotonyl CoA carboxylase. She presented with hyperventilation, hypotonia, and regression of motor and intellectual development. She responded to treatment with biotin.

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Year:  1976        PMID： 962376      PMCID： PMC1546117          DOI： 10.1136/adc.51.8.636

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  7 in total

1.  Effects of fatty acid anions on the electroencephalogram of unanesthetized rabbits.

Authors:  F E SAMSON; R P WHITE
Journal:  Am J Physiol       Date:  1956-08

Review 2.  Inborn errors of organic acid metabolism.

Authors:  D Gompertz
Journal:  Clin Endocrinol Metab       Date:  1974-03

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.  Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism.

Authors:  L Eldjarn; E Jellum; O Stokke; H Pande; P E Waaler
Journal:  Lancet       Date:  1970-09-05       Impact factor: 79.321

5.  Localisation of enzymic defect in propionicacidaemia.

Authors:  D Gompertz; C N Storrs; D C Bau; T J Peters; E A Hughes
Journal:  Lancet       Date:  1970-05-30       Impact factor: 79.321

6.  Child with a defect in leucine metabolism associated with beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria.

Authors:  D Gompertz; K Bartlett; D Blair; C M Stern
Journal:  Arch Dis Child       Date:  1973-12       Impact factor: 3.791

7.  Propionicacidemia, a new inborn error of metabolism.

Authors:  F A Hommes; J R Kuipers; J D Elema; J F Jansen; J H Jonxis
Journal:  Pediatr Res       Date:  1968-11       Impact factor: 3.756
  7 in total
  7 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.  Studies on cultured fibroblasts from patients with defects of biotin-dependent carboxylation.

Authors:  K Bartlett; H Ng; G Dale; A Green; J V Leonard
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

3.  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

4.  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

5.  Biotinidase Deficiency, Bilateral Optic Atrophy, and a Visual Field Defect.

Authors:  Sarah Chamney; Vasuki Gnana Jothi; Eibhlin McLoone
Journal:  Neuroophthalmology       Date:  2013-11-19

6.  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

7.  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
  7 in total

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