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
Analysis of mutations causing biotinidase deficiency
β Scribed by Kirit Pindolia; Megan Jordan; Barry Wolf
- Book ID
- 102266430
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 296 KB
- Volume
- 31
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Biotinidase deficiency is a defect in the recycling of the vitamin biotin. Biotin supplementation can markedly improve the neurological and cutaneous symptoms of affected children and prevent symptoms in children identified by newborn screening or treated since birth. We have determined thirteen nov
The enzyme carnitine-acylcarnitine translocase (CACT) is involved in the transport of long-chain fatty acids into mitochondria. CACT deficiency is a life-threatening, recessively inherited disorder of lipid beta-oxidation which manifests in early infancy with hypoketotic hypoglycemia, cardiomyopathy