A different perspective into clinical symptoms in CPT I deficiency

A different perspective into clinical symptoms in CPT I deficiency

Carnitine palmitoyltransferase I (CPT I) deficiency is an autosomal recessive disorder causing long-chain fatty acid oxidation defect, characterized by metabolic decompensation episodes accompanied by hypoketotic hypoglycemia, hepatomegaly, seizures, renal tubular acidosis, and hyperammonemia. The a...

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Bibliographic Details
Main Authors: Mehmet Cihan Balci, Meryem Karaca, Arzu Selamioglu, Huseyin Kutay Korbeyli, Asli Durmus, Belkis Ak, Tugba Kozanoglu, Gulden Fatma Gokcay
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Fatty acids
Carnitine palmitoyltransferase I deficiency
Neurologic manifestations
Speech disorders
Language development disorders
Reye-like syndrome
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426923000782

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http://www.sciencedirect.com/science/article/pii/S2214426923000782

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