Literature DB >> 1468456

Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria.

C Bellini1, R Cerone, W Bonacci, U Caruso, C P Magliano, G Serra, B Fowler, C Romano.   

Abstract

We describe a patient with methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism of the Cbl-C type mutant (McKusick 277400). Our case was diagnosed within the first 2 months of life by amino acid analysis (ion-exchange chromatography) and by biochemical studies in cultured fibroblasts ([14C]propionate incorporation, methionine and serine formation). We discuss the clinical course and the biochemical evolution after 2 years of hydroxycobalamin treatment that led to an improvement in general clinical condition and neurological performance.

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Year:  1992        PMID： 1468456     DOI： 10.1007/bf01957932

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


  8 in total

1.  cblC disease: case report and monitoring of a pregnancy at risk by chorionic villus sampling.

Authors:  E Zammarchi; A Lippi; S Falorni; E Pasquini; B A Cooper; D S Rosenblatt
Journal:  Clin Invest Med       Date:  1990-06       Impact factor: 0.825

2.  A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia.

Authors:  R J Mamlok; J N Isenberg; D K Rassin; K Norcross; H H Tallan
Journal:  Neuropediatrics       Date:  1986-05       Impact factor: 1.947

3.  Methylmalonic aciduria with homocystinuria.

Authors:  A Ribes; M A Vilaseca; P Briones; A Maya; J Sabater; P Pascual; L Alvarez; J Ros; E Gonzalez Pascual
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

4.  Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.

Authors:  A Ribes; P Briones; M A Vilaseca; M Lluch; M Rodes; A Maya; J Campistol; P Pascual; T Suormala; R Baumgartner
Journal:  Eur J Pediatr       Date:  1990-03       Impact factor: 3.183

5.  Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type).

Authors:  Y Brandstetter; E Weinhouse; M L Splaingard; T T Tang
Journal:  Am J Med Genet       Date:  1990-06

6.  Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria.

Authors:  D W Bartholomew; M L Batshaw; R H Allen; C R Roe; D Rosenblatt; D L Valle; C A Francomano
Journal:  J Pediatr       Date:  1988-01       Impact factor: 4.406

7.  First trimester diagnosis of methylmalonic aciduria.

Authors:  B Fowler; L Giles; I B Sardharwalla; P Donnai; J K Clayton
Journal:  Prenat Diagn       Date:  1988-03       Impact factor: 3.050

8.  Transsulphuration and methylation of homocysteine in control and mutant human fibroblasts.

Authors:  B Fowler
Journal:  Biochim Biophys Acta       Date:  1982-10-11
  8 in total
  7 in total

1.  Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.

Authors:  R Cerone; M C Schiaffino; U Caruso; S Lupino; R Gatti
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

2.  Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings.

Authors:  A Rossi; R Cerone; R Biancheri; R Gatti; M C Schiaffino; C Fonda; E Zammarchi; P Tortori-Donati
Journal:  AJNR Am J Neuroradiol       Date:  2001-03       Impact factor: 3.825

Review 3.  Hyperhomocysteinaemia; with reference to its neuroradiological aspects.

Authors:  M van den Berg; M S van der Knaap; G H Boers; C D Stehouwer; J A Rauwerda; J Valk
Journal:  Neuroradiology       Date:  1995-07       Impact factor: 2.804

4.  Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

Authors:  D S Rosenblatt; A L Aspler; M I Shevell; B A Pletcher; W A Fenton; M R Seashore
Journal:  J Inherit Metab Dis       Date:  1997-08       Impact factor: 4.982

Review 5.  Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature.

Authors:  Peter J Mc Guire; Elizabeth Lim-Melia; George A Diaz; Kimiyo Raymond; Alexandra Larkin; Melissa P Wasserstein; Claude Sansaricq
Journal:  Mol Genet Metab       Date:  2007-10-26       Impact factor: 4.797

6.  Clinical presentation and outcome in a series of 88 patients with the cblC defect.

Authors:  Sabine Fischer; Martina Huemer; Matthias Baumgartner; Federica Deodato; Diana Ballhausen; Avihu Boneh; Alberto B Burlina; Roberto Cerone; Paula Garcia; Gülden Gökçay; Stephanie Grünewald; Johannes Häberle; Jaak Jaeken; David Ketteridge; Martin Lindner; Hanna Mandel; Diego Martinelli; Esmeralda G Martins; Karl O Schwab; Sarah C Gruenert; Bernd C Schwahn; László Sztriha; Maren Tomaske; Friedrich Trefz; Laura Vilarinho; David S Rosenblatt; Brian Fowler; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2014-03-06       Impact factor: 4.982

Review 7.  Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Authors:  Martina Huemer; Daria Diodato; Bernd Schwahn; Manuel Schiff; Anabela Bandeira; Jean-Francois Benoist; Alberto Burlina; Roberto Cerone; Maria L Couce; Angeles Garcia-Cazorla; Giancarlo la Marca; Elisabetta Pasquini; Laura Vilarinho; James D Weisfeld-Adams; Viktor Kožich; Henk Blom; Matthias R Baumgartner; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2016-11-30       Impact factor: 4.982
  7 in total

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