Biotinidase deficiency mimicking primary immune deficiencies

Area of Science:

• Metabolic Disorders
• Genetics
• Pediatrics

Background:

• Biotinidase deficiency (BD) is an autosomal recessive inherited metabolic disorder.
• High consanguinity rates in Turkey contribute to a higher incidence of BD in the region.
• Untreated BD can lead to severe neurological deficits, including seizures, hypotonia, and sensorineural deafness.

Observation:

• A 3-year-old girl presented with recurrent infections, candidiasis, and eczematous skin rash.
• Immunological evaluations were normal, ruling out primary immunodeficiency.
• The presence of sensorineural deafness and parental consanguinity suggested BD.

Findings:

• Enzyme activity measurements confirmed Biotinidase deficiency in the patient.
• The case highlights the link between BD and recurrent infections/candidiasis.
• This emphasizes the importance of considering metabolic disorders in pediatric cases with these symptoms.

Implications:

• Highlights the need for increased awareness of Biotinidase deficiency in pediatricians and geneticists.
• Suggests that recurrent infections and candidiasis can be early indicators of underlying metabolic disorders.
• Underscores the importance of newborn screening programs for early detection and management of Biotinidase deficiency to prevent irreversible neurological damage.