Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency

S. Di Donato; M. Rimoldi; B. Garavaglia; G. Uziel

doi:10.1016/0009-8981(84)90187-6

Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency

S. Di Donato, M. Rimoldi, B. Garavaglia, G. Uziel

Fondazione IRCCS Istituto Neurologico "C. Besta"

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

Abstract

Two patients with propionic acidemia (PA) and two patients with methylmalonic aciduria (MMA) had low plasma free carnitine and increased short-chain acylcarnitines. Urinary excretion of free carnitine was decreased, while the excretion of short-chain acylcarnitines, mostly propionylcarnitine, was increased. Carnitine supplementation markedly increased the short-chain acylcarnitine fractions of both plasma and urine. Total carnitine content was decreased in skeletal muscle biopsies obtained from two of the patients. It is suggested that in these organic acidurias mitochondrial propionylcarnitine, formed from free carnitine and excess propionylCoA, exchanges with free cytosolic carnitine: propionylcarnitine is then lost in the urine, causing secondary carnitine deficiency in the tissues.

Original language	English
Pages (from-to)	13-21
Number of pages	9
Journal	Clinica Chimica Acta
Volume	139
Issue number	1
DOIs	https://doi.org/10.1016/0009-8981(84)90187-6
Publication status	Published - May 16 1984

Keywords

Organic aciduria
Propionylcarnitine
Secondary carnitine deficiency

ASJC Scopus subject areas

Biochemistry
Clinical Biochemistry

Access to Document

10.1016/0009-8981(84)90187-6

Fingerprint Dive into the research topics of 'Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency'. Together they form a unique fingerprint.

Cite this

@article{304ab4e50a334affa8cc41fe52fdd762,

title = "Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency",

abstract = "Two patients with propionic acidemia (PA) and two patients with methylmalonic aciduria (MMA) had low plasma free carnitine and increased short-chain acylcarnitines. Urinary excretion of free carnitine was decreased, while the excretion of short-chain acylcarnitines, mostly propionylcarnitine, was increased. Carnitine supplementation markedly increased the short-chain acylcarnitine fractions of both plasma and urine. Total carnitine content was decreased in skeletal muscle biopsies obtained from two of the patients. It is suggested that in these organic acidurias mitochondrial propionylcarnitine, formed from free carnitine and excess propionylCoA, exchanges with free cytosolic carnitine: propionylcarnitine is then lost in the urine, causing secondary carnitine deficiency in the tissues.",

keywords = "Organic aciduria, Propionylcarnitine, Secondary carnitine deficiency",

author = "{Di Donato}, S. and M. Rimoldi and B. Garavaglia and G. Uziel",

year = "1984",

month = may,

day = "16",

doi = "10.1016/0009-8981(84)90187-6",

language = "English",

volume = "139",

pages = "13--21",

journal = "Clinica Chimica Acta",

issn = "0009-8981",

publisher = "Elsevier",

number = "1",

}

TY - JOUR

T1 - Propionylcarnitine excretion in propionic and methylmalonic acidurias

T2 - a cause of carnitine deficiency

AU - Di Donato, S.

AU - Rimoldi, M.

AU - Garavaglia, B.

AU - Uziel, G.

PY - 1984/5/16

Y1 - 1984/5/16

N2 - Two patients with propionic acidemia (PA) and two patients with methylmalonic aciduria (MMA) had low plasma free carnitine and increased short-chain acylcarnitines. Urinary excretion of free carnitine was decreased, while the excretion of short-chain acylcarnitines, mostly propionylcarnitine, was increased. Carnitine supplementation markedly increased the short-chain acylcarnitine fractions of both plasma and urine. Total carnitine content was decreased in skeletal muscle biopsies obtained from two of the patients. It is suggested that in these organic acidurias mitochondrial propionylcarnitine, formed from free carnitine and excess propionylCoA, exchanges with free cytosolic carnitine: propionylcarnitine is then lost in the urine, causing secondary carnitine deficiency in the tissues.

AB - Two patients with propionic acidemia (PA) and two patients with methylmalonic aciduria (MMA) had low plasma free carnitine and increased short-chain acylcarnitines. Urinary excretion of free carnitine was decreased, while the excretion of short-chain acylcarnitines, mostly propionylcarnitine, was increased. Carnitine supplementation markedly increased the short-chain acylcarnitine fractions of both plasma and urine. Total carnitine content was decreased in skeletal muscle biopsies obtained from two of the patients. It is suggested that in these organic acidurias mitochondrial propionylcarnitine, formed from free carnitine and excess propionylCoA, exchanges with free cytosolic carnitine: propionylcarnitine is then lost in the urine, causing secondary carnitine deficiency in the tissues.

KW - Organic aciduria

KW - Propionylcarnitine

KW - Secondary carnitine deficiency

UR - http://www.scopus.com/inward/record.url?scp=0021337412&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0021337412&partnerID=8YFLogxK

U2 - 10.1016/0009-8981(84)90187-6

DO - 10.1016/0009-8981(84)90187-6

M3 - Article

C2 - 6723070

AN - SCOPUS:0021337412

VL - 139

SP - 13

EP - 21

JO - Clinica Chimica Acta

JF - Clinica Chimica Acta

SN - 0009-8981

IS - 1

ER -