Methionine auxotrophy in inborn errors of cobalamin metabolism

Vesna D Garovic, D. S. Rosenblatt

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Several of the inborn errors of vitamin B12 (cobalamin, Cbl) metabolism (cblC, cblD, cblE, cblF, cblG) are associated with homocystinuria and hypomethioninemia due to a functional deficiency of the cytoplasmic enzyme methionine synthase which requires methylcobalamin (MeCbl) as a cofactor. We compared the growth of cultured fibroblasts from controls, from patients with a selective deficiency of MeCbl (cblE and cblG), with those with a defect in both MeCbl and adenosylcobalamin (AdoCbl) (cblC, cblD and cblF), in methionine and folic acid-free media to their growth in fully supplemented medium. Control cells were able to grow in deficient medium supplied with homocysteine, cobalamin and folate, while mutant cells were not, due to their inability to synthesize methionine from its immediate metabolic precursor, homocysteine. This differential growth is useful in screening for genetic defects of methionine biosynthesis.

Original languageEnglish (US)
Pages (from-to)395-400
Number of pages6
JournalClinical and Investigative Medicine
Volume15
Issue number4
StatePublished - 1992
Externally publishedYes

Fingerprint

Inborn Errors Metabolism
Vitamin B 12
Methionine
Homocysteine
Folic Acid
Growth
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
Homocystinuria
Genetic Testing
Fibroblasts
Enzymes
mecobalamin

Keywords

  • Cbl
  • cobalamin
  • homocysteine
  • methionine
  • vitamin B

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Methionine auxotrophy in inborn errors of cobalamin metabolism. / Garovic, Vesna D; Rosenblatt, D. S.

In: Clinical and Investigative Medicine, Vol. 15, No. 4, 1992, p. 395-400.

Research output: Contribution to journalArticle

@article{61c49510c42a4b6ca2902f530b5942ab,
title = "Methionine auxotrophy in inborn errors of cobalamin metabolism",
abstract = "Several of the inborn errors of vitamin B12 (cobalamin, Cbl) metabolism (cblC, cblD, cblE, cblF, cblG) are associated with homocystinuria and hypomethioninemia due to a functional deficiency of the cytoplasmic enzyme methionine synthase which requires methylcobalamin (MeCbl) as a cofactor. We compared the growth of cultured fibroblasts from controls, from patients with a selective deficiency of MeCbl (cblE and cblG), with those with a defect in both MeCbl and adenosylcobalamin (AdoCbl) (cblC, cblD and cblF), in methionine and folic acid-free media to their growth in fully supplemented medium. Control cells were able to grow in deficient medium supplied with homocysteine, cobalamin and folate, while mutant cells were not, due to their inability to synthesize methionine from its immediate metabolic precursor, homocysteine. This differential growth is useful in screening for genetic defects of methionine biosynthesis.",
keywords = "Cbl, cobalamin, homocysteine, methionine, vitamin B",
author = "Garovic, {Vesna D} and Rosenblatt, {D. S.}",
year = "1992",
language = "English (US)",
volume = "15",
pages = "395--400",
journal = "Clinical and Investigative Medicine",
issn = "0147-958X",
publisher = "The Canadian Society for Clinical Investigation",
number = "4",

}

TY - JOUR

T1 - Methionine auxotrophy in inborn errors of cobalamin metabolism

AU - Garovic, Vesna D

AU - Rosenblatt, D. S.

PY - 1992

Y1 - 1992

N2 - Several of the inborn errors of vitamin B12 (cobalamin, Cbl) metabolism (cblC, cblD, cblE, cblF, cblG) are associated with homocystinuria and hypomethioninemia due to a functional deficiency of the cytoplasmic enzyme methionine synthase which requires methylcobalamin (MeCbl) as a cofactor. We compared the growth of cultured fibroblasts from controls, from patients with a selective deficiency of MeCbl (cblE and cblG), with those with a defect in both MeCbl and adenosylcobalamin (AdoCbl) (cblC, cblD and cblF), in methionine and folic acid-free media to their growth in fully supplemented medium. Control cells were able to grow in deficient medium supplied with homocysteine, cobalamin and folate, while mutant cells were not, due to their inability to synthesize methionine from its immediate metabolic precursor, homocysteine. This differential growth is useful in screening for genetic defects of methionine biosynthesis.

AB - Several of the inborn errors of vitamin B12 (cobalamin, Cbl) metabolism (cblC, cblD, cblE, cblF, cblG) are associated with homocystinuria and hypomethioninemia due to a functional deficiency of the cytoplasmic enzyme methionine synthase which requires methylcobalamin (MeCbl) as a cofactor. We compared the growth of cultured fibroblasts from controls, from patients with a selective deficiency of MeCbl (cblE and cblG), with those with a defect in both MeCbl and adenosylcobalamin (AdoCbl) (cblC, cblD and cblF), in methionine and folic acid-free media to their growth in fully supplemented medium. Control cells were able to grow in deficient medium supplied with homocysteine, cobalamin and folate, while mutant cells were not, due to their inability to synthesize methionine from its immediate metabolic precursor, homocysteine. This differential growth is useful in screening for genetic defects of methionine biosynthesis.

KW - Cbl

KW - cobalamin

KW - homocysteine

KW - methionine

KW - vitamin B

UR - http://www.scopus.com/inward/record.url?scp=0026726291&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026726291&partnerID=8YFLogxK

M3 - Article

C2 - 1516297

AN - SCOPUS:0026726291

VL - 15

SP - 395

EP - 400

JO - Clinical and Investigative Medicine

JF - Clinical and Investigative Medicine

SN - 0147-958X

IS - 4

ER -