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Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.

Clinical biochemistry - 1 Dec 2021

Habib Anasufiza, Azize Nor Azimah Abdul, Rahman Salina Abd, Yakob Yusnita, Suberamaniam Vengadeshwaran, Nazri Muhammad Irfan Bukhari Ahmad, Abdullah Sani Huzaimah, Ch'ng Gaik-Siew, Yin Leong Huey, Olpin Simon, Lock-Hock Ngu

Abstract excerpt

OBJECTIVE: Carnitine-acylcarnitine Translocase (CACT) deficiency (OMIM 212138) and carnitine palmitoyl transferase 2 (CPT2) deficiency (OMIM 60065050) are rare inherited disorders of mitochondrial long chain fatty acid oxidation. The aim of our study is to review the clinical, biochemical and molecular characteristics in children diagnosed with CACT and CPT2 deficiencies in Malaysia. DESIGN AND METHODS: This is a...

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PMID: 34626609
DOI: 10.1016/j.clinbiochem.2021.10.002

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