Visit Metagene.de!
Summary
HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT (HCVAD)
115300
OMIM = Online Medalian Inheritance of Men
199285
16q23.2
very rare
autosomal dominant
mutation in the BCMO1 gene
symptoms
onset, childhood
onset, infancy
skin, abnormal
skin, yellow colored
laboratory finding
Vitamin A +€mol/lserum
beta-Carotene +€mol/lserum
Literature
Y-¦ld-¦z EP,Ekici B, Tatl-¦ BNeonatal hypoxic ischemic encephalopathy: an update on disease pathogenesis and treatmentExpert Rev Neurother175449-4592017
Bali DS,et al.Glycogen Storage Disease Type IGeneReviews-« Internet002016
Bali DS,et al.Glycogen Storage Disease Type IGeneReviews-« Internet002016
Bali DS,et al.Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase DeficiencyJIMD Rep37062-732017