Roshan Singh
Ministry of Health Malaysia, MalaysiaTitle: A case report of Carnitine Palmitoyltransferase deficiency type II
Abstract
Carnitine Palmitoyltransferase deficiency type II (CPT II) is a rare metabolic disorder of fatty acid oxidation with an autosomal recessive mode of inheritance. The outcome is usually severe with most of the patients typically passing away in the newborn period. In this report, we would like to share our experience in managing a case of CPT II
Carnitine enzyme is required for the transport of long-chain fatty acids into the mitochondria for the β-oxidation cycle. Four types of carnitine defects have been detected.
The four defects are; Carnitine transport defect, Carnitine Palmitoyltransferase deficiency type IA (CPT I), Carnitine Acylcarnitine translocase deficiency (CACT), and Carnitine Palmitoyltransferase deficiency type II (CPT II). The carnitine palmitoyltransferase type II (CPT II) enzyme converts long-chain acylcarnitine to long-chain acylCoAs for β-oxidation. This CPT II deficiency is an autosomal recessive disorder and there are 3 main phenotypes in this deficiency: lethal neonatal form, severe infantile hepatocardiomuscular form, and the myopathic form.
Biography
Roshan Singh's credentials are impressive! With a Diploma in Child Health (DCH) and Membership of the Royal College of Physicians and Child Health, he has undergone rigorous training in pediatric medicine and is well-equipped to provide comprehensive care to children. His practice in Malaysia likely allows him to serve a diverse population and address various pediatric health concerns. Furthermore, having multiple publications and citations demonstrates his commitment to advancing pediatric medicine through research and scholarly contributions. This indicates that he not only provides excellent clinical care but also actively engages in academic pursuits to enhance the understanding and treatment of pediatric conditions. Roshan Singh's expertise and dedication undoubtedly make him a valuable asset to the healthcare community in Malaysia, where he can positively impact the health and well-being of children and families.
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