Biotinidase deficiency in a newborn

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Biotinidase deficiency is an inherited metabolic disorder affecting biotin metabolism.
• Untreated, it can manifest within the first few months of life with severe consequences.

Observation:

• A rare case of biotinidase deficiency was observed in a Moroccan newborn.
• The infant presented with severe dermatological symptoms including erythroderma and alopecia within the first week of life.
• Diagnosis was confirmed by low serum biotinidase levels, but the infant unfortunately passed away before treatment could be initiated.

Findings:

• This case highlights the critical need for early diagnosis of biotinidase deficiency.
• The presented symptoms underscore the severity of untreated biotinidase deficiency.
• The low serum concentration confirmed the diagnosis in this neonatal case.

Implications:

• The rarity and late presentation of this case in Morocco emphasize the need for enhanced newborn screening programs.
• Lack of timely diagnosis and treatment availability in Morocco can lead to fatal outcomes.
• This observation calls for improved access to diagnosis and treatment for inherited metabolic disorders in the region.