Deficit in biotinidase

The deficit in biotinidase in the absence of treatment appears by neurological disorders (Convulsion S and hypotonia) and cutaneous (vésiculobulleuses eruptions). These demonstrations are often accompanied by disorders respiratoires.
The later demonstrations include/understand the Alopécie, occurred of a Surdité, a Ataxie and sight trouble and frequent Infection S.

The partial deficit appears by losses of hair, disorders cutaneous and episodes of hypotonia particularly at the time of the stress.

The remarkably effective treatment rests on the administration with life of Biotine per bone with the amount from 5 to 10 milligrams per day. Some children will keep especially neurological after-effects.

Incidence & prevalence

1 out of 120 is carrying the overdrawn Gène

Etiology

Change of the Gene BTD localized on the Chromosome 3 coding the Biotinidase

Description

Diagnosis

Assumption of responsibility & treatment

The genetic Council

Mode of transmission

recessive autosomic Transmission

Sources

  • Orphanet Encyclopedia * Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 253260 253260
  • GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005]

See too

External bonds

  • the page of orphanet devoted to the multiple deficits in carboxylases
  • savebabies.org
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