Muscle carnitine acetyltransferase and carnitine deficiency in a case of mitochondrial encephalomyopathy

B. Melegh, L. Séress, T. Bedekovics, G. Kispál, B. Sümegi, K. Trombitás, K. Méhes

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)827-838
Number of pages12
JournalJournal of Inherited Metabolic Disease
Volume22
Issue number7
DOIs
Publication statusPublished - 1999

Fingerprint

Mitochondrial Encephalomyopathies
Carnitine
Purkinje Cells
Mitochondrial DNA
Skeletal Muscle
Carnitine O-Acetyltransferase
Weights and Measures
Muscles
Mitochondrial Genome
Muscle Spasticity
Cerebellum
Axons
Lower Extremity
Autopsy
Myocardium
Electron Microscopy
Pediatrics
Polymerase Chain Reaction
Carnitine Acetyltransferase Deficiency

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

@article{e853eafd8f7445188aaea11b0ac2fbe5,
title = "Muscle carnitine acetyltransferase and carnitine deficiency in a case of mitochondrial encephalomyopathy",
abstract = "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.",
author = "B. Melegh and L. S{\'e}ress and T. Bedekovics and G. Kisp{\'a}l and B. S{\"u}megi and K. Trombit{\'a}s and K. M{\'e}hes",
year = "1999",
doi = "10.1023/A:1005562209034",
language = "English",
volume = "22",
pages = "827--838",
journal = "Journal of Inherited Metabolic Disease",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "7",

}

TY - JOUR

T1 - Muscle carnitine acetyltransferase and carnitine deficiency in a case of mitochondrial encephalomyopathy

AU - Melegh, B.

AU - Séress, L.

AU - Bedekovics, T.

AU - Kispál, G.

AU - Sümegi, B.

AU - Trombitás, K.

AU - Méhes, K.

PY - 1999

Y1 - 1999

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0032821980&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0032821980&partnerID=8YFLogxK

U2 - 10.1023/A:1005562209034

DO - 10.1023/A:1005562209034

M3 - Article

C2 - 10518284

AN - SCOPUS:0032821980

VL - 22

SP - 827

EP - 838

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

IS - 7

ER -