Literature DB >> 2332011

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

A Ribes1, P Briones, M A Vilaseca, M Lluch, M Rodes, A Maya, J Campistol, P Pascual, T Suormala, R Baumgartner.   

Abstract

A patient with infantile onset methylmalonic aciduria and homocystinuria (Cbl-C mutant) is described. Therapy with hydroxycobalamin, folate and vitamin B6 improved his condition. As hypomethioninaemia and homocystinaemia persisted, he was treated with intramuscular methylcobalamin, but without success. Treatment with betaine started at 25 months of age, normalized plasma methionine and elicited disappearance of homocystinaemia. Results of biochemical studies in cultured fibroblasts paralleled those described for other Cbl-C patients except that methylmalonyl-coenzyme A mutase activity in disrupted fibroblasts was in the normal range.

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Year:  1990        PMID： 2332011     DOI： 10.1007/bf02009662

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


  29 in total

Review 1.  Genetic and biochemical analysis of human cobalamin mutants in cell culture.

Authors:  W A Fenton; L E Rosenberg
Journal:  Annu Rev Genet       Date:  1978       Impact factor: 16.830

2.  Mental retardation, megaloblastic anaemia, methylmalonic aciduria and abnormal homocysteine metabolism due to an error in vitamin B12 metabolism.

Authors:  M J Dillon; J M England; D Gompertz; P A Goodey; D B Grant; H A Hussein; J C Linnell; D M Matthews; S H Mudd; G H Newns; J W Seakins; B W Uhlendorf; I J Wise
Journal:  Clin Sci Mol Med       Date:  1974-07

3.  Homocystinuria with methylmalonic aciduria: two cases in a sibship.

Authors:  S I Goodman; P G Moe; K B Hammond; S H Mudd; B W Uhlendorf
Journal:  Biochem Med       Date:  1970-12

4.  Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblC cells.

Authors:  I Mellman; H F Willard; P Youngdahl-Turner; L E Rosenberg
Journal:  J Biol Chem       Date:  1979-12-10       Impact factor: 5.157

5.  Inborn errors of cobalamin metabolism: effect of cobalamin supplementation in culture on methylmalonyl CoA mutase activity in normal and mutant human fibroblasts.

Authors:  H F Willard; L E Rosenberg
Journal:  Biochem Genet       Date:  1979-02       Impact factor: 1.890

6.  A unique case of derangement of vitamin B12 metabolism.

Authors:  M Anthony; A C McLeay
Journal:  Proc Aust Assoc Neurol       Date:  1976

7.  Abnormal deoxyuridine suppression test in congenital methylmalonic aciduria-homocystinuria without megaloblastic anemia: divergent biochemical and morphological bone marrow manifestations of disordered cobalamin metabolism in man.

Authors:  R Carmel; S I Goodman
Journal:  Blood       Date:  1982-02       Impact factor: 22.113

8.  Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria.

Authors:  G A Mitchell; D Watkins; S B Melançon; D S Rosenblatt; G Geoffroy; J Orquin; M B Homsy; L Dallaire
Journal:  J Pediatr       Date:  1986-03       Impact factor: 4.406

9.  Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis.

Authors:  D S Rosenblatt; B A Cooper; A Pottier; H Lue-Shing; N Matiaszuk; K Grauer
Journal:  J Clin Invest       Date:  1984-12       Impact factor: 14.808

10.  Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.

Authors:  D Watkins; D S Rosenblatt
Journal:  J Clin Invest       Date:  1988-06       Impact factor: 14.808
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  9 in total

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

Authors:  C Bellini; R Cerone; W Bonacci; U Caruso; C P Magliano; G Serra; B Fowler; C Romano
Journal:  Eur J Pediatr       Date:  1992-11       Impact factor: 3.183

2.  Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation.

Authors:  F A Wijburg; D S Rosenblatt; G D Vos; J W Oorthuys; L G van't Hek; B J Poorthuis; M K Sanders; R B Schutgens
Journal:  Eur J Pediatr       Date:  1992-02       Impact factor: 3.183

3.  The association of protein-losing enteropathy with cobalamin C defect.

Authors:  C Ellaway; J Christodoulou; R Kamath; K Carpenter; B Wilcken
Journal:  J Inherit Metab Dis       Date:  1998-02       Impact factor: 4.982

Review 4.  Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

Authors:  Nuria Carrillo-Carrasco; Randy J Chandler; Charles P Venditti
Journal:  J Inherit Metab Dis       Date:  2011-07-12       Impact factor: 4.982

5.  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

6.  Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.

Authors:  D S Froese; S Healy; M McDonald; G Kochan; U Oppermann; F H Niesen; R A Gravel
Journal:  Mol Genet Metab       Date:  2010-02-15       Impact factor: 4.797

7.  The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.

Authors:  Jennifer L Sloan; Nathan P Achilly; Madeline L Arnold; Jerrel L Catlett; Trevor Blake; Kevin Bishop; Marypat Jones; Ursula Harper; Milton A English; Stacie Anderson; Niraj S Trivedi; Abdel Elkahloun; Victoria Hoffmann; Brian P Brooks; Raman Sood; Charles P Venditti
Journal:  Hum Mol Genet       Date:  2020-08-03       Impact factor: 6.150

8.  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 9.  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
  9 in total

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