IllnessBiotinidase deficiency, differential diagnosis

NGS +

In biotinidase deficiency, the vitamin biotin cannot be recycled. The symptoms typically occur in the first months of life or later in childhood. The more severe form can lead to seizures, hypotonia, breathing problems, hearing and vision loss, ataxia, skin rashes, alopecia, developmental delays and candidiasis. Partial biotinidase deficiency is a milder form in which the affected children only suffer from hypotonia, skin rashes and hair loss in the event of illness, infection or long-term stress. Mutations in the BTD gene cause multiple carboxylase deficiency by reducing or completely eliminating the activity of biotinidase. Severe biotinidase deficiency is present when biotinidase activity is reduced to <10%. If the disease is not treated in time, toxic metabolites damage various cell and tissue types. The disease is inherited in an autosomal recessive manner. If the symptoms are typical, the molecular genetic yield can reach almost 100%. Yet a negative molecular genetic result does not exclude one or the other form in the diagnostic spectrum of multiple carboxylase deficiencies.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1322/

• Alias: BTD deficiency
• Alias: BTD-Mangel
• Alias: Carboxylase deficiency, multiple, late-onset
• Alias: Late-Onset Multiple Carboxylase Deficiency
• Alias: Late-onset biotin-responsive multiple carboxylase deficiency
• Alias: Late-onset multiple carboxylase deficiency
• Alias: Multiple carboxylase deficiency, late-onset
• Alias: Multipler Carboxylase-Mangel, juveniler
• Alias: Multipler Carboxylase-Mangel, spät-einsetzender
• 3-Methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1)
• 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2)
• Acetyl-CoA carboxylase deficiency (ACACA)
• Biotinidase deficiency (BTD)
• Holocarboxylase synthetase deficiency (HLCS)
• Propionicacidemia (PCCA, PCCB)
• Pyruvate carboxylase deficiency (PC)