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Literature DB >> 3766542

Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF).

Abstract

A patient has been described with methylmalonic aciduria because of an inability to release free vitamin B12 from lysosomes. Complementation analysis was performed using fibroblasts from this patient and those from patients having previously described mutations causing methylmalonic aciduria (mut, cblA, cblB, cblC, and cblD). Incorporation of label from [1-14C]propionate into acid-precipitable material was elevated in heterokaryons formed by polyethylene glycol (PEG) treatment of mixed cultures of cells from the patient and all other complementation groups as compared to the incorporation in parallel cultures not treated with PEG. These results indicate that complementation occurred in all cases and support the assignment of the patient to a new complementation group that has been designated cblF.

Entities: Chemical Disease Gene Species

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Substances：

Year: 1986 PMID： 3766542 PMCID： PMC1683971

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

7 in total

1. Protein measurement with the Folin phenol reagent.

Authors: O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal: J Biol Chem Date: 1951-11 Impact factor: 5.157

2. Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.

Authors: H F Willard; I S Mellman; L E Rosenberg
Journal: Am J Hum Genet Date: 1978-01 Impact factor: 11.025

3. Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism.

Authors: S Schuh; D S Rosenblatt; B A Cooper; M L Schroeder; A J Bishop; L E Seargeant; J C Haworth
Journal: N Engl J Med Date: 1984-03-15 Impact factor: 91.245

4. Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency.

Authors: R R McInnes; V Shih; S Chilton
Journal: Proc Natl Acad Sci U S A Date: 1984-07 Impact factor: 11.205

5. Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism.

Authors: D S Rosenblatt; A Hosack; N V Matiaszuk; B A Cooper; R Laframboise
Journal: Science Date: 1985-06-14 Impact factor: 47.728

6. 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

7. Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.

Authors: R A Gravel; M J Mahoney; F H Ruddle; L E Rosenberg
Journal: Proc Natl Acad Sci U S A Date: 1975-08 Impact factor: 11.205

7 in total

15 in total

1. 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

Review 2. Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease.

Authors: Susann Gailus; Wolfgang Höhne; Bruno Gasnier; Peter Nürnberg; Brian Fowler; Frank Rutsch
Journal: J Mol Med (Berl) Date: 2010-02-20 Impact factor: 4.599

3. Human methionine synthase reductase is a molecular chaperone for human methionine synthase.

Authors: Kazuhiro Yamada; Roy A Gravel; Tetsuo Toraya; Rowena G Matthews
Journal: Proc Natl Acad Sci U S A Date: 2006-06-12 Impact factor: 11.205

4. Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH).

Authors: D Watkins; N Matiaszuk; D S Rosenblatt
Journal: J Med Genet Date: 2000-07 Impact factor: 6.318

Review 5. Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patients.

Authors: Yiouli P Ktena; Trygg Ramstad; Eva H Baker; Jennifer L Sloan; Andrew J Mannes; Irini Manoli; Charles P Venditti
Journal: J Inherit Metab Dis Date: 2015-05-19 Impact factor: 4.982

6. Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome.

Authors: S Yano; L Li; T P Le; K Moseley; A Guedalia; J Lee; I Gonzalez; R G Boles
Journal: J Inherit Metab Dis Date: 2003 Impact factor: 4.982