Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: Two distinct entities

France Demaugre, Jean Paul Bonnefont, Grant Mitchell, Nam Nguyen-Hoang, Anna Pelet, Marco Rimoldi, Stefano Di Donato, Jean Marie Saudubray

Research output: Contribution to journalArticle

Abstract

Human carnitine palmitoyl transferase (CTP) deficiency results in two different clinical variants, one with “hepatic” and one with “muscular” symptoms. We studied CPT activity and long-chain fatty acid oxidation in fibroblast cell lines from four patients, two from each group. Overall CPT activity was deficient in patient’s fibroblasts with the hepatic presentation, as previously demonstrated in patients’ fibroblasts with the muscular presentation. The hepatic patients’ fibroblasts displayed a CPT1 deficiency which resulted in impaired long-chain fatty acid oxidation. In contrast, CPT1 activity and palmi-tate oxidation were normal in muscular patients’ fibroblasts. In these latter patients, the mutation presumably involved CPT2 activity. These data suggest that CPT deficiency is due to at least two different mutations, resulting in two distinct patterns of clinical and biochemical abnormalities.

Original languageEnglish
Pages (from-to)308-311
Number of pages4
JournalPediatric Research
Volume24
Issue number3
Publication statusPublished - 1988

Fingerprint

Carnitine
Transferases
Fibroblasts
Liver
Fatty Acids
Mutation
Cell Line

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Demaugre, F., Bonnefont, J. P., Mitchell, G., Nguyen-Hoang, N., Pelet, A., Rimoldi, M., ... Saudubray, J. M. (1988). Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: Two distinct entities. Pediatric Research, 24(3), 308-311.

Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency : Two distinct entities. / Demaugre, France; Bonnefont, Jean Paul; Mitchell, Grant; Nguyen-Hoang, Nam; Pelet, Anna; Rimoldi, Marco; Di Donato, Stefano; Saudubray, Jean Marie.

In: Pediatric Research, Vol. 24, No. 3, 1988, p. 308-311.

Research output: Contribution to journalArticle

Demaugre, F, Bonnefont, JP, Mitchell, G, Nguyen-Hoang, N, Pelet, A, Rimoldi, M, Di Donato, S & Saudubray, JM 1988, 'Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: Two distinct entities', Pediatric Research, vol. 24, no. 3, pp. 308-311.
Demaugre F, Bonnefont JP, Mitchell G, Nguyen-Hoang N, Pelet A, Rimoldi M et al. Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: Two distinct entities. Pediatric Research. 1988;24(3):308-311.
Demaugre, France ; Bonnefont, Jean Paul ; Mitchell, Grant ; Nguyen-Hoang, Nam ; Pelet, Anna ; Rimoldi, Marco ; Di Donato, Stefano ; Saudubray, Jean Marie. / Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency : Two distinct entities. In: Pediatric Research. 1988 ; Vol. 24, No. 3. pp. 308-311.
@article{69d7416e553c419ba3b132ba8ea57865,
title = "Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: Two distinct entities",
abstract = "Human carnitine palmitoyl transferase (CTP) deficiency results in two different clinical variants, one with “hepatic” and one with “muscular” symptoms. We studied CPT activity and long-chain fatty acid oxidation in fibroblast cell lines from four patients, two from each group. Overall CPT activity was deficient in patient’s fibroblasts with the hepatic presentation, as previously demonstrated in patients’ fibroblasts with the muscular presentation. The hepatic patients’ fibroblasts displayed a CPT1 deficiency which resulted in impaired long-chain fatty acid oxidation. In contrast, CPT1 activity and palmi-tate oxidation were normal in muscular patients’ fibroblasts. In these latter patients, the mutation presumably involved CPT2 activity. These data suggest that CPT deficiency is due to at least two different mutations, resulting in two distinct patterns of clinical and biochemical abnormalities.",
author = "France Demaugre and Bonnefont, {Jean Paul} and Grant Mitchell and Nam Nguyen-Hoang and Anna Pelet and Marco Rimoldi and {Di Donato}, Stefano and Saudubray, {Jean Marie}",
year = "1988",
language = "English",
volume = "24",
pages = "308--311",
journal = "Pediatric Research",
issn = "0031-3998",
publisher = "Lippincott Williams and Wilkins",
number = "3",

}

TY - JOUR

T1 - Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency

T2 - Two distinct entities

AU - Demaugre, France

AU - Bonnefont, Jean Paul

AU - Mitchell, Grant

AU - Nguyen-Hoang, Nam

AU - Pelet, Anna

AU - Rimoldi, Marco

AU - Di Donato, Stefano

AU - Saudubray, Jean Marie

PY - 1988

Y1 - 1988

N2 - Human carnitine palmitoyl transferase (CTP) deficiency results in two different clinical variants, one with “hepatic” and one with “muscular” symptoms. We studied CPT activity and long-chain fatty acid oxidation in fibroblast cell lines from four patients, two from each group. Overall CPT activity was deficient in patient’s fibroblasts with the hepatic presentation, as previously demonstrated in patients’ fibroblasts with the muscular presentation. The hepatic patients’ fibroblasts displayed a CPT1 deficiency which resulted in impaired long-chain fatty acid oxidation. In contrast, CPT1 activity and palmi-tate oxidation were normal in muscular patients’ fibroblasts. In these latter patients, the mutation presumably involved CPT2 activity. These data suggest that CPT deficiency is due to at least two different mutations, resulting in two distinct patterns of clinical and biochemical abnormalities.

AB - Human carnitine palmitoyl transferase (CTP) deficiency results in two different clinical variants, one with “hepatic” and one with “muscular” symptoms. We studied CPT activity and long-chain fatty acid oxidation in fibroblast cell lines from four patients, two from each group. Overall CPT activity was deficient in patient’s fibroblasts with the hepatic presentation, as previously demonstrated in patients’ fibroblasts with the muscular presentation. The hepatic patients’ fibroblasts displayed a CPT1 deficiency which resulted in impaired long-chain fatty acid oxidation. In contrast, CPT1 activity and palmi-tate oxidation were normal in muscular patients’ fibroblasts. In these latter patients, the mutation presumably involved CPT2 activity. These data suggest that CPT deficiency is due to at least two different mutations, resulting in two distinct patterns of clinical and biochemical abnormalities.

UR - http://www.scopus.com/inward/record.url?scp=0023720123&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023720123&partnerID=8YFLogxK

M3 - Article

C2 - 3211616

AN - SCOPUS:0023720123

VL - 24

SP - 308

EP - 311

JO - Pediatric Research

JF - Pediatric Research

SN - 0031-3998

IS - 3

ER -