Abstract
A 13 month old girl with biotinidase deficiency is described. Biotinidase deficiency is a disorder in the liberation and reutilisation of biotin. The disorder has a variable clinical presentation. The described patient suffered from alopecia, recurrent infections, convulsions, lethargy, hypotonia, hyperlactactacidemia and increased of excretion 3-hydroxy isovaleric acid and 3-methylerotonylglycine in the urine. Diagnosis was confirmed through decreased bitiotinidase activity in serum. Treatment with free biotine resulted in complete recovery. An overview of clinical symptoms is given.
| Original language | Dutch |
|---|---|
| Pages (from-to) | 90-92 |
| Number of pages | 3 |
| Journal | Tijdschrift voor Kindergeneeskunde |
| Volume | 66 |
| Issue number | 2 |
| Publication status | Published - 1 Dec 1998 |