Ahmed Abdelhafiz

A Case Report of Severe Biotin Deficiency with Life Threatening Metabolic Acidosis in a Young Female

Palaniappan Inbamuthiah, Osama Alian, Imad Eldin Hamad, Rajesh Gupta, Mohamed Badawy & Ahmed Abdelhafiz · Asian Journal of Case Reports in Medicine and Health · 2026

Holocarboxylase synthetase deficiency is a rare inherited disorder of biotin metabolism that impairs the activity of multiple biotin-dependent carboxylases. Although it usually presents during the neonatal period or infancy, clinically significant metabolic decompensation may occ...