Diagnosis and management of symptomatic profound biotinidase deficiency in a tertiary care center in Lebanon

Abstract

Neonatal screening for biotinidase deficiency is still lacking in several countries worldwide, although this neurocutaneous disorder is treatable and preventable. Therefore, unscreened patients are diagnosed when symptomatic; treatment with Biotin is known to reverse cutaneous symptoms and improve neurological outcome. We describe a series of five symptomatic patients diagnosed with profound biotinidase deficiency and followed at a tertiary care center in Lebanon, for a variable period from 16 months to 11 years. Adjustment of Biotin therapy is correlated to clinical response and biochemical profile including 3-hydroxyisovalerylcarnitine on dried blood spots and urine organic acids. A previously unreported mutation is also reported in a patient who displayed an unusual outcome with reversible hearing loss on Biotin therapy. Clinical responsiveness to Biotin may be related to the underlying genetic mutation, although no clear genotype-phenotype correlation in biotinidase deficiency is proven. Furthermore, in the absence of systematic newborn screening for this disorder in several countries, identification of a reliable blood biomarker of Biotin responsiveness is warranted for better management of late diagnosed symptomatic patients. © 2020 The Canadian Society of Clinical Chemists