Literature DB >> 7128647

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

F A Beemer, K Bartlett, M Duran, H K Ghneim, S K Wadman, L Bruinvis, D Ketting.   

Abstract

Two Vietnamese siblings with an isolated deficiency of 3-methylcrotonyl coenzyme A carboxylase in leucocytes and cultured fibroblasts are described. Both children excreted massive amounts of 3-methylcrotonylglycine and 3-hydroxyisovaleric acid. There was no in vivo or in vitro biochemical response to biotin. Apart from an attack of vomiting leading to subcoma in the elder sib four weeks after arrival in the Netherlands, the children were in good health. There were no signs of delayed mental development.

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Year:  1982        PMID： 7128647     DOI： 10.1007/bf00442517

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


  17 in total

Review 1.  Biotin enzymes.

Authors:  H G Wood; R E Barden
Journal:  Annu Rev Biochem       Date:  1977       Impact factor: 23.643

2.  The specificity of glycine-N-acylase and acylglycine excretion in the organicacidaemias.

Authors:  K Bartlett; D Gompertz
Journal:  Biochem Med       Date:  1974-05

3.  An improved assay of erythrocyte and leukocyte galactose-1-phosphate uridyl transferase: stabilization of the enzyme by a thiol protective reagent.

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Journal:  J Lab Clin Med       Date:  1965-12

4.  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

5.  Gas chromatography of urinary N-phenylacetylglutamine.

Authors:  J P Kamerling; M Brouwer; D Ketting; S K Wadman
Journal:  J Chromatogr       Date:  1979-10-11

6.  Reassessment of biotin-responsiveness in "unresponsive" propionyl CoA carboxylase deficiency.

Authors:  B Wolf
Journal:  J Pediatr       Date:  1980-12       Impact factor: 4.406

7.  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

8.  [Multiple biotin-dependent carboxylase deficiencies (author's transl)].

Authors:  A Munnich; J M Saudubray; H Ogier; F X Coude; C Marsac; F Roccichioli; J C Labarthe; C Cazenave; J Laugier; C Charpentier; J Frézal
Journal:  Arch Fr Pediatr       Date:  1981-02

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

Authors:  W Lehnert; H Niederhoff; A Junker; H Saule; W Frasch
Journal:  Eur J Pediatr       Date:  1979-10       Impact factor: 3.183

10.  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
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  17 in total

1.  The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

Authors:  M R Baumgartner; S Almashanu; T Suormala; C Obie; R N Cole; S Packman; E R Baumgartner; D Valle
Journal:  J Clin Invest       Date:  2001-02       Impact factor: 14.808

2.  Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness.

Authors:  E M Layward; M S Tanner; R J Pollitt; K Bartlett
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

Review 3.  Enzyme studies in biotin-responsive disorders.

Authors:  K Bartlett; H K Ghneim; H J Stirk; H Wastell
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

4.  Benign clinical presentation of 3-methylcrotonylglycinuria.

Authors:  M A Pearson; K A Aleck; R A Heidenreich
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

5.  Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.

Authors:  C Jakobs; L Sweetman; W L Nyhan; S Packman
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

6.  Symptoms and signs in organic acidurias.

Authors:  N J Brandt
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

7.  Prenatal diagnosis of the organic acidurias.

Authors:  L Sweetman
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

8.  Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.

Authors:  Matthias R Baumgartner; M Fernanda Dantas; Terttu Suormala; Shlomo Almashanu; Cecilia Giunta; Dolores Friebel; Boris Gebhardt; Brian Fowler; Georg F Hoffmann; E Regula Baumgartner; David Valle
Journal:  Am J Hum Genet       Date:  2004-09-09       Impact factor: 11.025

9.  Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset.

Authors:  W Lehnert; H Niederhoff; T Suormala; E R Baumgartner
Journal:  Eur J Pediatr       Date:  1996-07       Impact factor: 3.183

10.  Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.

Authors:  D D Koeberl; D S Millington; W E Smith; S D Weavil; J Muenzer; S E McCandless; P S Kishnani; M T McDonald; S Chaing; A Boney; E Moore; D M Frazier
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982
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