ABSTRACT-Carnitine Deficiency

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http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=212160

CARNITINE DEFICIENCY, MYOPATHIC

TEXT

Carnitine (beta-hydroxy-gamma-trimethylaminobutyric acid) is an

essential cofactor for transport of long chain fatty acids across

mitochondrial membranes, permitting beta-oxidation. Carnitine in body

fluids is derived from the diet or biosynthesis and is actively

transported into muscle. Two biochemically and clinically distinct

disorders cause low concentrations of carnitine in skeletal muscle.

Systemic carnitine deficiency (212140) shows low carnitine in the liver

and/or plasma. In muscle carnitine deficiency, lipid storage myopathy

occurs with low muscle carnitine but normal liver and serum carnitine.

Cases were reported by Engel and Angelini (1973), Markesbery et al.

(1974), VanDyke et al. (1975), and others. In the patient reported by

Engel and Angelini (1973), addition of carnitine to muscle homogenate

repaired fatty acid oxidation, suggesting that carnitine transport into

muscle was impaired. Hosking et al. (1977) reported benefit of oral

carnitine therapy. In the patient reported by Willner et al. (1979),

carnitine treatment did not repair the defect and transport of carnitine

into muscle was normal. This and some other patients with lipid storage

myopathy responded to corticosteroids. VanDyke et al. (1975) found

reduced levels of muscle carnitine in both parents of an 8-year-old boy

with this disorder, thus supporting autosomal recessive inheritance. See

255100. 30 PubMed Neighbors

SEE ALSO

Almog et al. (1979); Angelini (1975); Angelini et al. (1978); Cornelio

et al. (1977); Engel and Siekert (1972); Scarlato et al. (1977);

Scarlato et al. (1978); Scholte et al. (1979); Smyth et al. (1975)

REFERENCES

1. Almog, C.; Fried, K.; Reif, R.; Zieghelboim, J.; ohn, G. :

Autosomal recessive lipid storage myopathy (probable carnitine

deficiency). J. Med. Genet. 16: 435-438, 1979.

PubMed ID : 537015

2. Angelini, C. :

Carnitine deficiency. (Letter) Lancet II: 554 only, 1975.

3. Angelini, C.; Govoni, E.; Bragaglia, M. M.; Vergani, L. :

Carnitine deficiency: acute postpartum crisis. Ann. Neurol. 4:

558-561, 1978.

PubMed ID : 742856

4. Cornelio, F.; Di Donato, S.; Peluchetti, D.; Bizzi, A.; Bertagnolio,

B.; D'Angelo, A.; Wiesmann, U. :

Fatal cases of lipid storage myopathy with carnitine deficiency. J.

Neurol. Neurosurg. Psychiat. 40: 170-178, 1977.

PubMed ID : 194020

5. Engel, A. G.; Angelini, C. :

Carnitine deficiency of human skeletal muscle with associated lipid

storage myopathy: a new syndrome. Science 179: 899-901, 1973.

PubMed ID : 4687787

6. Engel, A. G.; Siekert, R. G. :

Lipid storage myopathy responsive to prednisone. Arch. Neurol. 27:

174-181, 1972.

PubMed ID : 5040634

7. Hosking, G. P.; Cavanagh, N. P. C.; Smyth, D. P. L.; , J. :

Oral treatment of carnitine myopathy. (Letter) Lancet I: 853 only,

1977.

8. Markesbery, W. R.; McQuillen, M. P.; Procopis, P. G.; on, A.

R.; Engel, A. G. :

Muscle carnitine deficiency: association with lipid myopathy,

vascular neuropathy, and vacuolated leukocytes. Arch. Neurol. 31:

320-324, 1974.

PubMed ID : 4414743

9. Scarlato, G.; Albizzati, M. G.; Bassi, S.; Cerri, C.; Frottola, L. :

A case of lipid storage myopathy with carnitine deficiency:

biochemical and electromyographic correlations. Europ. Neurol. 16:

222-229, 1977.

PubMed ID : 615713

10. Scarlato, G.; Pellegrini, G.; Cerri, C.; Meola, G.; Veicsteinas, A. :

The syndrome of carnitine deficiency: morphological and metabolic

correlations in two cases. J. Canad. Sci. Neurol. 5: 205-213, 1978.

11. Scholte, H. R.; Meijer, A. E. F. H.; Van Wijngaarden, G. K.;

Leenders, K. L. :

Familial carnitine deficiency: a fatal case and subclinical state in

a sister. J. Neurol. Sci. 42: 87-101, 1979.

PubMed ID : 156248

12. Smyth, D. P. L.; Lake, B. D.; MacDermot, J.; , J. :

Inborn error of carnitine metabolism ('carnitine deficiency') in

man. (Letter) Lancet I: 1198-1199, 1975.

13. VanDyke, D. H.; Griggs, R. C.; Markesbery, W. R.; DiMauro, S. :

Hereditary carnitine deficiency of muscle. Neurology 25: 154-159, 1975.

PubMed ID : 123043

14. Willner, J.; DiMauro, S.; Eastwood, A.; Hays, A.; Roohi, F.;

Lovelace, R. :

Muscle carnitine deficiency: genetic heterogeneity. J. Neurol. Sci.

41: 235-246, 1979.

PubMed ID : 438852

CREATION DATE

Victor A. McKusick : 6/3/1986

EDIT HISTORY

alopez : 3/18/2004

mimadm : 2/19/1994

supermim : 3/16/1992

carol : 10/8/1991

supermim : 3/20/1990

supermim : 2/17/1990

ddp : 10/26/1989

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