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Muscle carnitine acetyltransferase and carnitine deficiency in a case of mitochondrial encephalomyopathy
Author(s) -
Melegh B.,
Seress L.,
Bedekovics T.,
Kispál G.,
Sümegi B.,
Trombitás K.,
Méhes K.
Publication year - 1999
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005562209034
Subject(s) - heteroplasmy , carnitine , mitochondrial dna , biology , skeletal muscle , mitochondrial myopathy , mitochondrion , mitochondrial encephalomyopathy , choline acetyltransferase , purkinje cell , cerebellum , endocrinology , medicine , pathology , genetics , central nervous system , gene
Profound decrease of the carnitine acetyltransferase activity (0.08 U/g wet weight; 1.67% of control) and carnitine deficiency (total carnitine was 230 nmol/g wet weight in the patient vs 2730 in the controls) was detected in the skeletal muscle of a female paediatric patient. She died of her illness, which included cerebellar symptoms and slight muscle spasticity affecting mainly the lower extremities, at 1 year of age. Histological examination of the autopsy specimens revealed a selective Purkinje cell degeneration in the cerebellum: the cells had abnormal position, were shrunken and decreased in number, and displayed abnormal dendritic trees and fragmented, disorganized axons. Electron microscopy revealed mitochondrial abnormalities in skeletal and cardiac muscle and also in the Purkinje cells. Deletions of the mitochondrial DNA were detected in the muscle in heteroplasmic form (up to 7%). Mainly the ND4‐ND4L region was affected, as evidenced by the PCR; however, other regions of the mitochondrial genome also showed deletions of varying size and extent, suggesting multiple deletions of the mitochondrial DNA.