We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A NEW CASE OF BCKDHB 508 (С-Т) HOMOZYGOUS GENE MUTATION IN MAPLE SYRUP URINE DISEASE.
- Authors
Huseynova, L. S.; Rasulov, E. M.; Aliyeva, K. A.
- Abstract
A family case of inherited disease - maple syrup urine disease - was identified and was accompanied with three amino acids: valine, leucine and isoleucine metabolism disorder. A new previously unknown in Azerbaijan homozygous mutation of 508 (С-Т) for BCKDHB gene was identified in two kids of both genders. Presence of three neutral genetic polymorphisms was identified in BCKDHА gene: 972 (С-Т), 59 (С-Т) and 1221 (А-G), all heterozygous. Taking into account presence of the said disease in the population, the ways of prophylaxis are being discussed as medical-genetic consultancy with the following prenatal diagnostics and disease mass screening in newborns in Azerbaijan Republic.
- Subjects
ISOLEUCINE; ESSENTIAL amino acids; MAPLE syrup urine disease; BRAIN diseases; NEONATAL diseases
- Publication
Advances in Biology & Earth Sciences, 2017, Vol 2, Issue 2, p248
- ISSN
2520-2847
- Publication type
Article