Inborn Errors of Biotin Metabolism
December 1987
in “
Archives of Dermatology
”
Studysummary This study highlights two newly discovered metabolic disorders of biotin, showing distinct skin and hair symptoms and severe complications like acidosis and ketosis.
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 inborn errors of biotin metabolism identified in 1987, highlighting their significant impact on human physiology. The neonatal-onset disease was linked to a defect in the enzyme holocarboxylase synthetase, while the later infantile-onset disease involved a defect in the enzyme biotinidase. Both conditions presented with notable clinical symptoms affecting the skin and hair, including alopecia totalis with a bright red scaly eruption in the neonatal disease and patchy alopecia with skin lesions resembling acrodermatitis enteropathica in biotinidase deficiency. Additionally, both disorders were associated with recurrent, life-threatening episodes of acidosis and massive ketosis.
