Mitochondria-lipid-glycogen myopathy, hyperlactacidemia, and carnitine deficiency

S. Di Donato, F. Cornelio, M. R. Balestrini, B. Bertagnolio, D. Peluchetti

Research output: Contribution to journalArticle

Abstract

25-month-old girl had proximal myopathy, increased blood lactate and pyruvate concentrations, and transient ketoacidosis. Muscle biopsy revealed vacuolar myopathy with accumulation of both lipid and glycogen. Electronmicroscopy also showed abnormalities in the shape, size, and internal structure of muscle mitochondria. Carnitine content of skeletal muscle was reduced. Short-chain and long-chain acyl-carnitines were augmented in both plasma and skeletal muscle. Oral carnitine therapy improved muscle strength.

Original languageEnglish
Pages (from-to)1110-1116
Number of pages7
JournalNeurology
Volume28
Issue number11
Publication statusPublished - 1978

Fingerprint

Carnitine
Muscular Diseases
Glycogen
Mitochondria
Lipids
Skeletal Muscle
Muscle Mitochondrion
Ketosis
Muscle Strength
Pyruvic Acid
Lactic Acid
Biopsy
Muscles
Therapy
Plasma
Blood
Proximal
Therapeutics

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

Cite this

Di Donato, S., Cornelio, F., Balestrini, M. R., Bertagnolio, B., & Peluchetti, D. (1978). Mitochondria-lipid-glycogen myopathy, hyperlactacidemia, and carnitine deficiency. Neurology, 28(11), 1110-1116.

Mitochondria-lipid-glycogen myopathy, hyperlactacidemia, and carnitine deficiency. / Di Donato, S.; Cornelio, F.; Balestrini, M. R.; Bertagnolio, B.; Peluchetti, D.

In: Neurology, Vol. 28, No. 11, 1978, p. 1110-1116.

Research output: Contribution to journalArticle

Di Donato, S, Cornelio, F, Balestrini, MR, Bertagnolio, B & Peluchetti, D 1978, 'Mitochondria-lipid-glycogen myopathy, hyperlactacidemia, and carnitine deficiency', Neurology, vol. 28, no. 11, pp. 1110-1116.
Di Donato S, Cornelio F, Balestrini MR, Bertagnolio B, Peluchetti D. Mitochondria-lipid-glycogen myopathy, hyperlactacidemia, and carnitine deficiency. Neurology. 1978;28(11):1110-1116.
Di Donato, S. ; Cornelio, F. ; Balestrini, M. R. ; Bertagnolio, B. ; Peluchetti, D. / Mitochondria-lipid-glycogen myopathy, hyperlactacidemia, and carnitine deficiency. In: Neurology. 1978 ; Vol. 28, No. 11. pp. 1110-1116.
@article{3bbb8047a6c149fd8e1a22900cc0d9d5,
title = "Mitochondria-lipid-glycogen myopathy, hyperlactacidemia, and carnitine deficiency",
abstract = "25-month-old girl had proximal myopathy, increased blood lactate and pyruvate concentrations, and transient ketoacidosis. Muscle biopsy revealed vacuolar myopathy with accumulation of both lipid and glycogen. Electronmicroscopy also showed abnormalities in the shape, size, and internal structure of muscle mitochondria. Carnitine content of skeletal muscle was reduced. Short-chain and long-chain acyl-carnitines were augmented in both plasma and skeletal muscle. Oral carnitine therapy improved muscle strength.",
author = "{Di Donato}, S. and F. Cornelio and Balestrini, {M. R.} and B. Bertagnolio and D. Peluchetti",
year = "1978",
language = "English",
volume = "28",
pages = "1110--1116",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "11",

}

TY - JOUR

T1 - Mitochondria-lipid-glycogen myopathy, hyperlactacidemia, and carnitine deficiency

AU - Di Donato, S.

AU - Cornelio, F.

AU - Balestrini, M. R.

AU - Bertagnolio, B.

AU - Peluchetti, D.

PY - 1978

Y1 - 1978

N2 - 25-month-old girl had proximal myopathy, increased blood lactate and pyruvate concentrations, and transient ketoacidosis. Muscle biopsy revealed vacuolar myopathy with accumulation of both lipid and glycogen. Electronmicroscopy also showed abnormalities in the shape, size, and internal structure of muscle mitochondria. Carnitine content of skeletal muscle was reduced. Short-chain and long-chain acyl-carnitines were augmented in both plasma and skeletal muscle. Oral carnitine therapy improved muscle strength.

AB - 25-month-old girl had proximal myopathy, increased blood lactate and pyruvate concentrations, and transient ketoacidosis. Muscle biopsy revealed vacuolar myopathy with accumulation of both lipid and glycogen. Electronmicroscopy also showed abnormalities in the shape, size, and internal structure of muscle mitochondria. Carnitine content of skeletal muscle was reduced. Short-chain and long-chain acyl-carnitines were augmented in both plasma and skeletal muscle. Oral carnitine therapy improved muscle strength.

UR - http://www.scopus.com/inward/record.url?scp=0018082279&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0018082279&partnerID=8YFLogxK

M3 - Article

C2 - 568729

AN - SCOPUS:0018082279

VL - 28

SP - 1110

EP - 1116

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 11

ER -