A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle

Rajinder Singh; Isobel M. Shepherd; Jerry P. Derrick; Rona R. Ramsay; H. Stanley A. Sherratt; Douglas M. Turnbull

doi:10.1016/0014-5793(88)81044-5

A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle

Rajinder Singh, Isobel M. Shepherd, Jerry P. Derrick, Rona R. Ramsay, H. Stanley A. Sherratt^*, Douglas M. Turnbull

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

Abstract

A 20-year-old man was shown to have a deficiency of carnitine palmitoyltransferase (CPT) II in skeletal muscle. The evidence was: (i) there was no significant oxidation of [9,10-³H]palmitate or of [1-¹⁴C]palmitate in mitochondrial fractions from fresh skeletal muscle from the patient; (ii) all the CPT activity in a homogenate of fresh muscle from the patient was overt (CPT I) with no increase in activity after the inner membrane was disrupted; (iii) all the CPT activity in the patient's muscle was inhibited by malonyl-CoA; and (iv) an immunoreactive peptide of 67 kDa corresponding to CPT II, present in mitochondria from controls, was absent in those from the patient.

Original language	English
Pages (from-to)	126-130
Number of pages	5
Journal	FEBS Letters
Volume	241
Issue number	1-2
DOIs	https://doi.org/10.1016/0014-5793(88)81044-5
Publication status	Published - 5 Dec 1988

Keywords

(Skeletal muscle)
Carnitine palmitoyltransferase deficiency
Carnitine palmitoyltransferase II
Mitochondria

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10.1016/0014-5793(88)81044-5

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title = "A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle",

abstract = "A 20-year-old man was shown to have a deficiency of carnitine palmitoyltransferase (CPT) II in skeletal muscle. The evidence was: (i) there was no significant oxidation of [9,10-3H]palmitate or of [1-14C]palmitate in mitochondrial fractions from fresh skeletal muscle from the patient; (ii) all the CPT activity in a homogenate of fresh muscle from the patient was overt (CPT I) with no increase in activity after the inner membrane was disrupted; (iii) all the CPT activity in the patient's muscle was inhibited by malonyl-CoA; and (iv) an immunoreactive peptide of 67 kDa corresponding to CPT II, present in mitochondria from controls, was absent in those from the patient.",

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AU - Singh, Rajinder

AU - Shepherd, Isobel M.

AU - Derrick, Jerry P.

AU - Ramsay, Rona R.

AU - Sherratt, H. Stanley A.

AU - Turnbull, Douglas M.

PY - 1988/12/5

Y1 - 1988/12/5

N2 - A 20-year-old man was shown to have a deficiency of carnitine palmitoyltransferase (CPT) II in skeletal muscle. The evidence was: (i) there was no significant oxidation of [9,10-3H]palmitate or of [1-14C]palmitate in mitochondrial fractions from fresh skeletal muscle from the patient; (ii) all the CPT activity in a homogenate of fresh muscle from the patient was overt (CPT I) with no increase in activity after the inner membrane was disrupted; (iii) all the CPT activity in the patient's muscle was inhibited by malonyl-CoA; and (iv) an immunoreactive peptide of 67 kDa corresponding to CPT II, present in mitochondria from controls, was absent in those from the patient.

AB - A 20-year-old man was shown to have a deficiency of carnitine palmitoyltransferase (CPT) II in skeletal muscle. The evidence was: (i) there was no significant oxidation of [9,10-3H]palmitate or of [1-14C]palmitate in mitochondrial fractions from fresh skeletal muscle from the patient; (ii) all the CPT activity in a homogenate of fresh muscle from the patient was overt (CPT I) with no increase in activity after the inner membrane was disrupted; (iii) all the CPT activity in the patient's muscle was inhibited by malonyl-CoA; and (iv) an immunoreactive peptide of 67 kDa corresponding to CPT II, present in mitochondria from controls, was absent in those from the patient.

KW - (Skeletal muscle)

KW - Carnitine palmitoyltransferase deficiency

KW - Carnitine palmitoyltransferase II

KW - Mitochondria

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A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle

Abstract

Keywords

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