HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT (HCVAD)

Question 1

What is  HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT (HCVAD)?

Accepted Answer

very rare

autosomal dominant

mutation in the BCMO1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 115300

Question 3

Which enzymes are involved?

Accepted Answer

Beta,beta-carotene 15,15-dioxygenase

Disease	HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT (HCVAD)
OMIM	115300 OMIM = Online Mendelian Inheritance of Men
Orphanet	199285
Protein (UniProt)	Beta,beta-carotene 15,15-dioxygenase
ExPASy	1.14.99.36
Gene locus	16q23.2
ICD	E50.8
Summary	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