HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT (HCVAD) | |
115300
OMIM = Online Mendelian Inheritance of Men | |
199285 | |
Beta,beta-carotene 15,15-dioxygenase | |
1.14.99.36 | |
16q23.2 |
|
E50.8 | |
very rare autosomal dominant mutation in the BCMO1 gene | |
Laboratory findings | beta-Carotene inc (serum) Vitamin A dec (serum) |
Symptoms | skin, yellow colored onset, childhood onset, infancy skin, abnormal |