Document Detail

Ocular aspects in biotinidase deficiency. Clinical and genetic original studies.
MedLine Citation:
PMID:  3658339     Owner:  NLM     Status:  MEDLINE    
There are two distinct forms of multiple carboxylase deficiency. A neonatal onset form is due to deficiency of holocarboxylase-synthetase. A later onset form in which neurological abnormalities are seen as well as those of the skin and hair is due to biotinidase deficiency. It is the purpose of this report to describe a patient with biotinidase deficiency who presents bilateral optic atrophy. The dosage of biotinidase enzyme in the patient's serum and in other members of his family confirms the autosomal recessive transmission of this condition.
G Campana; G Valentini; M I Legnaioli; M L Giovannucci-Uzielli; E Pavari
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Ophthalmic paediatrics and genetics     Volume:  8     ISSN:  0167-6784     ISO Abbreviation:  Ophthalmic Paediatr Genet     Publication Date:  1987 Jun 
Date Detail:
Created Date:  1987-11-17     Completed Date:  1987-11-17     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8206832     Medline TA:  Ophthalmic Paediatr Genet     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  125-9     Citation Subset:  IM    
Institute of Ophthalmology, II Eye Clinic, University of Florence, Italy.
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MeSH Terms
Alopecia / complications
Amidohydrolases / deficiency*
Biotin / therapeutic use
Child, Preschool
Genes, Recessive
Keratoconjunctivitis / complications
Multiple Carboxylase Deficiency / complications*,  drug therapy
Optic Atrophy / drug therapy,  etiology*
Reg. No./Substance:
58-85-5/Biotin; EC 3.5.-/Amidohydrolases; EC

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