Cerebral metabolic changes in biotinidase deficiency
✍ Scribed by M. Schürmann; V. Engelbrecht; K. Lohmeier; H. G. Lenard; U. Wendel; J. Gärtner
- Book ID
- 110222599
- Publisher
- Springer
- Year
- 1997
- Tongue
- English
- Weight
- 227 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0141-8955
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📜 SIMILAR VOLUMES
Communicated by Linda Tyfield Biotinidase (BTD) is the only enzyme that can cleave biocytin, a product of the proteolytic digestion of holocarboxylases. Profound BTD deficiency (less than 10% mean normal activity in serum) is an autosomal recessive disorder that can result in neurological and cutane
Biotinidase deficiency is an autosomal-recessive disorder of biotin recycling. Children with profound biotinidase deficiency usually have neurological and cutaneous symptoms in early childhood, but they may not develop symptoms until adolescence. We now report on a man and a woman with profound biot