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

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

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

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

Fondazione IRCCS Istituto Neurologico "C. Besta"

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

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 language	English
Pages (from-to)	1110-1116
Number of pages	7
Journal	Neurology
Volume	28
Issue number	11
Publication status	Published - 1978

ASJC Scopus subject areas

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

Cite this

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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",

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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.

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

M3 - Article

C2 - 568729

AN - SCOPUS:0018082279

SN - 0028-3878

VL - 28

SP - 1110

EP - 1116

JO - Neurology

JF - Neurology

IS - 11

ER -

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

Abstract

ASJC Scopus subject areas

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