Novel mutations associated with Carnitine-Acylcarnitine Translocase and Carnitine Palmitoyl Transferase 2 deficiencies in Malaysia

CONCLUSIONS: The use of the (C16+C18:1)/C2 acylcarnitine ratio in dried blood spot in our experience improves the diagnostic specificity for CACT/CPT2 deficiencies over long chain acylcarnitine (C16 and C18:1) alone. DNA sequencing for both genes aids in confirming the diagnosis.PMID:34626609 | DOI:10.1016/j.clinbiochem.2021.10.002

Source: Clinical Biochemistry - October 9, 2021 Category: Biochemistry Authors: Anasufiza Habib Nor Azimah Abdul Azize Salina Abd Rahman Yusnita Yakob Vengadeshwaran Suberamaniam Muhammad Irfan Bukhari Ahmad Nazri Huzaimah Abdullah Sani Gaik-Siew Ch'ng Leong Huey Yin Simon Olpin Ngu Lock-Hock Source Type: research