The Handbook of School Health
September 1993
in “
Archives of Disease in Childhood
”
TLDR Early diagnosis and treatment with biotin are crucial for preventing severe outcomes in certain conditions.
The document discussed the importance of accurately diagnosing conditions that may be mislabelled as acrodermatitis enteropathica, particularly when biochemical indicators like abnormal organic aciduria are absent. It emphasized that symptoms, especially neurological and dermatological, are crucial for differential diagnosis. Untreated cases could lead to irreversible brain damage or death, but the condition was rapidly responsive to oral biotin, highlighting the need for early diagnosis and treatment. Diagnosis was straightforward through biotinidase activity determination in plasma or serum, and the condition should have been considered in cases of hair loss associated with neurological, dermatological, or respiratory illnesses.