Inborn Errors of Biotin Metabolism
December 1987
in “
Archives of Dermatology
”
New to Biotin? There is a guide in the encyclopedia. Read the guide → Studysummary This review discusses two genetic disorders affecting biotin metabolism, each resulting in distinctive skin and hair manifestations, and outlines the associated serious metabolic complications.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
The document discussed two newly discovered inborn errors of biotin metabolism, highlighting their significant impact on human physiology. The neonatal-onset disease was caused by a defect in the enzyme holocarboxylase synthetase, while the later infantile-onset disease involved a defect in the enzyme biotinidase. Both disorders presented with notable clinical symptoms affecting the skin and hair. The neonatal disease was characterized by alopecia totalis and a bright red scaly total body eruption, whereas biotinidase deficiency resulted in patchy alopecia and skin lesions similar to acrodermatitis enteropathica. Both conditions were further complicated by recurrent, life-threatening episodes of acidosis and massive ketosis.
