Evaluation of biotin responsiveness in cultured fibroblasts from patients with propionic acidemia

Absence of response by structurally altered carboxylases

Barry Wolf*

*Corresponding author for this work

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

We have demonstrated that, although propionyl CoA carboxylase (PCC) activity is deficient in fibroblast extracts from PCC-deficient patients belonging to the two major and two minor genetic complementation groups, the activity of another biotin-dependent carboxylase, β-methylcrotonyl CoA carboxylase (βMCC), is normal. Moreover, βMCC activity is stimulated when the fibroblasts are cultured in high concentrations of biotin, in the same way that it is in normal fibroblasts, whereas the depressed PCC activity remains essentially unchanged. Because these results are parallel with the in vivo failure of high-dose biotin to stimulate PCC activity in peripheral blood leukocytes, we conclude that the biotin responsiveness of PCC in cultured fibroblasts from patients with PCC deficiency may be used to predict or confirm biotin responsiveness in vivo.

Original languageEnglish (US)
Pages (from-to)709-713
Number of pages5
JournalBiochemical Genetics
Volume17
Issue number7-8
DOIs
StatePublished - Jan 1 1979

Fingerprint

propionyl-CoA carboxylase
Methylmalonyl-CoA Decarboxylase
Propionic Acidemia
biotin
Fibroblasts
Biotin
fibroblasts
blood
biotin carboxylase
genetic complementation
Leukocytes
dose
evaluation
leukocytes
Blood
extracts
dosage

Keywords

  • biotin
  • propionic acidemia
  • propionyl CoA carboxylase deficiency

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Biochemistry
  • Molecular Biology
  • Genetics

Cite this

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title = "Evaluation of biotin responsiveness in cultured fibroblasts from patients with propionic acidemia: Absence of response by structurally altered carboxylases",
abstract = "We have demonstrated that, although propionyl CoA carboxylase (PCC) activity is deficient in fibroblast extracts from PCC-deficient patients belonging to the two major and two minor genetic complementation groups, the activity of another biotin-dependent carboxylase, β-methylcrotonyl CoA carboxylase (βMCC), is normal. Moreover, βMCC activity is stimulated when the fibroblasts are cultured in high concentrations of biotin, in the same way that it is in normal fibroblasts, whereas the depressed PCC activity remains essentially unchanged. Because these results are parallel with the in vivo failure of high-dose biotin to stimulate PCC activity in peripheral blood leukocytes, we conclude that the biotin responsiveness of PCC in cultured fibroblasts from patients with PCC deficiency may be used to predict or confirm biotin responsiveness in vivo.",
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T1 - Evaluation of biotin responsiveness in cultured fibroblasts from patients with propionic acidemia

T2 - Absence of response by structurally altered carboxylases

AU - Wolf, Barry

PY - 1979/1/1

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N2 - We have demonstrated that, although propionyl CoA carboxylase (PCC) activity is deficient in fibroblast extracts from PCC-deficient patients belonging to the two major and two minor genetic complementation groups, the activity of another biotin-dependent carboxylase, β-methylcrotonyl CoA carboxylase (βMCC), is normal. Moreover, βMCC activity is stimulated when the fibroblasts are cultured in high concentrations of biotin, in the same way that it is in normal fibroblasts, whereas the depressed PCC activity remains essentially unchanged. Because these results are parallel with the in vivo failure of high-dose biotin to stimulate PCC activity in peripheral blood leukocytes, we conclude that the biotin responsiveness of PCC in cultured fibroblasts from patients with PCC deficiency may be used to predict or confirm biotin responsiveness in vivo.

AB - We have demonstrated that, although propionyl CoA carboxylase (PCC) activity is deficient in fibroblast extracts from PCC-deficient patients belonging to the two major and two minor genetic complementation groups, the activity of another biotin-dependent carboxylase, β-methylcrotonyl CoA carboxylase (βMCC), is normal. Moreover, βMCC activity is stimulated when the fibroblasts are cultured in high concentrations of biotin, in the same way that it is in normal fibroblasts, whereas the depressed PCC activity remains essentially unchanged. Because these results are parallel with the in vivo failure of high-dose biotin to stimulate PCC activity in peripheral blood leukocytes, we conclude that the biotin responsiveness of PCC in cultured fibroblasts from patients with PCC deficiency may be used to predict or confirm biotin responsiveness in vivo.

KW - biotin

KW - propionic acidemia

KW - propionyl CoA carboxylase deficiency

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