Details

Autor(en) / Beteiligte

• Singh, R
• Rabi Atul Adawiyah, M

Titel

A case report of Carnitine Palmitoyltransferase deficiency type II

Ist Teil von

• Medical journal of Malaysia, 2022-01, Vol.77 (1), p.98-100

Ort / Verlag

Malaysia

Erscheinungsjahr

2022

Quelle

MEDLINE

Beschreibungen/Notizen

• 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 share our experience in managing a case of CPT II in a one-day-old term female baby who was delivered at Hospital Sultan Abdul Halim.