Biotinidase
| Material: | 1 ml serum, better filter paper |
| Methods: | Spektrometrie → UV- / VIS-Photometrie | Reference range | > 30 % of the norm |
| Indication | Biotinidase deficiency (incidence of „late-onset“-type: 1:60.000). |
| Please note | Most children with biotinidase deficiency seem inconspicuous in their first days of life. First symptoms show in the first few weeks or only after months. Clinical symptoms are varied but affect hair, skin, and brain: Hair loss, exanthema, seizures, psychomotor retardation, impaired hearing, visual defects. |
| External services | ja Screening-Labor Hannover |
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