Premium
A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle
Author(s) -
Singh Rajinder,
Shepherd Isobel.M.,
Derrick Jerry P.,
Ramsay Rona R.,
Sherratt H.Stanley A.,
Turnbull Douglas M.
Publication year - 1988
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(88)81044-5
Subject(s) - carnitine , skeletal muscle , carnitine o palmitoyltransferase , endocrinology , medicine , carnitine palmitoyltransferase i , mitochondrion , mitochondrial myopathy , chemistry , myoglobinuria , inner mitochondrial membrane , human muscle , beta oxidation , biochemistry , enzyme , biology , gene , mitochondrial dna , rhabdomyolysis
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‐ 3 H]palmitate or of [1‐ 14 C]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.