SORBITOL DEHYDROGENASE (DEFICIENCY)

Question 1

What is  SORBITOL DEHYDROGENASE (DEFICIENCY)?

Accepted Answer

very rare

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Sorbitol-Dehydrogenase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 182500

Question 4

Which enzymes are involved?

Accepted Answer

Sorbitol dehydrogenase

Disease	SORBITOL DEHYDROGENASE (DEFICIENCY)
Synonym	SORD
OMIM	182500 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Sorbitol dehydrogenase
ExPASy	1.1.1.14
Gene locus	15q21.1 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Sorbitol dehydrogenase
ICD	---
Summary	very rare
Laboratory findings	D-Sorbitol inc (urine)
Symptoms	cataract onset, neonatal