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Case ReportCase Report
Open Access

Carnitine palmityl transferase I deficiency

Aida I. Al-Aqeel, Mohammed S. Rashed, Jos P. Ruiter, Hussa F. Al-Husseini, Mohammed S. Al-Amoudi and Ronald J. Wanders
Saudi Medical Journal November 2001, 22 (11) 1025-1029;
Aida I. Al-Aqeel
Department of Pediatrics, Riyadh Armed Forces Hospital, PO Box 7897, Riyadh 11159, Kingdom of Saudi Arabia. Tel. +966 (1) 4777714 ext 5452. Fax. +966 (1) 4762121.
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Mohammed S. Rashed
Department of Biological and Medical Research, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
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Jos P. Ruiter
Department of Clinical Chemistry, University of Amsterdam, Academic Medical Centre, Amsterdam, The Netherlands.
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Hussa F. Al-Husseini
Department of Pathology, Riyadh Armed Forces Hospital, Riyadh, Kingdom of Saudi Arabia.
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Mohammed S. Al-Amoudi
Department of Biological and Medical Research, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
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Ronald J. Wanders
Department of Clinical Chemistry, University of Amsterdam, Academic Medical Centre, Amsterdam, The Netherlands.
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Abstract

Carnitine palmityl transferase I is the key enzyme in the carnitine dependent transport of long chain fatty acids across the mitochondrial inner membrane and its deficiency results in a decrease rate of fatty acids beta-oxidation with decreased energy production. We reported a family of 3 affected siblings who are the product of a first degree cousin marriage. The first 2 presented with typical Reye-like syndrome with unconsciousness, hepatomegaly, hypoglycemia, hyperammonemia and very high liver enzymes. Liver biopsy showed steatosis. On screening of the complete family, the 3rd sibling was found to have hepatomegaly. The 3 siblings showed an acyl carnitine profile with very high free carnitine with almost absent long chain acyl carnitines, suggestive of carnitine palmityl transferase I deficiency. This was confirmed by enzyme analyses in fibroblast cultures. These patients were effectively treated with a diet high in carbohydrate, low in long chain fatty acids with medium chain triglycerides. In conclusion, carnitine palmityl transferase I deficiency is an important cause of Reye-like syndrome, which may be treated easily with very good results if detected early in life.

  • Copyright: © Saudi Medical Journal

This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Saudi Medical Journal: 22 (11)
Saudi Medical Journal
Vol. 22, Issue 11
1 Nov 2001
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Carnitine palmityl transferase I deficiency
Aida I. Al-Aqeel, Mohammed S. Rashed, Jos P. Ruiter, Hussa F. Al-Husseini, Mohammed S. Al-Amoudi, Ronald J. Wanders
Saudi Medical Journal Nov 2001, 22 (11) 1025-1029;

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Carnitine palmityl transferase I deficiency
Aida I. Al-Aqeel, Mohammed S. Rashed, Jos P. Ruiter, Hussa F. Al-Husseini, Mohammed S. Al-Amoudi, Ronald J. Wanders
Saudi Medical Journal Nov 2001, 22 (11) 1025-1029;
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© 2023 Saudi Medical Journal Saudi Medical Journal is copyright under the Berne Convention and the International Copyright Convention.  Saudi Medical Journal is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. Electronic ISSN 1658-3175. Print ISSN 0379-5284.

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