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Biotinidase deficiency: initial clinical features and rapid diagnosis
Annals of Neurology
|November 1, 1985
Summary
Biotinidase deficiency, a cause of late-onset multiple carboxylase deficiency, often presents with seizures in children. Early diagnosis and biotin treatment are crucial for managing this treatable metabolic disorder.
Area of Science:
- Biochemistry
- Pediatric Neurology
- Metabolic Disorders
Background:
- Biotinidase deficiency is the primary cause of late-onset multiple carboxylase deficiency.
- This condition affects multiple carboxylase enzymes essential for metabolism.
Purpose of the Study:
- To review the clinical features of 31 children diagnosed with biotinidase deficiency.
- To highlight the importance of considering this disorder in the differential diagnosis of pediatric seizures.
Main Methods:
- Clinical data from 31 affected children were analyzed.
- Diagnostic evaluation involved a semiquantitative colorimetric assay for biotinidase activity.
- Blood samples were collected on filter paper for laboratory analysis.
Main Results:
- Seizures were the most common initial symptom, often accompanied by neurological and cutaneous findings.
- Other observed symptoms included hypotonia, ataxia, hearing loss, optic atrophy, developmental delay, rash, and alopecia.
- Metabolic disturbances such as ketolactic acidosis and organic aciduria were characteristic.
Conclusions:
- Biotinidase deficiency should be considered in children presenting with infantile seizures, particularly with associated neurological or skin manifestations.
- The disorder is readily treatable with biotin supplementation.
- A simple blood test on filter paper can diagnose biotinidase deficiency, unaffected by common medications.