biotinidase deficiency

A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25.

Signs and symptoms

• Hypotonia
• Organic aciduria
• Metabolic ketoacidosis
• Alopecia
• Seizure
• Global developmental delay
• Skin rash
• Ataxia
• Optic atrophy
• Lethargy

Also known as: BTD deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency; deficiency of biotinidase