LACTATE DEHYDROGENASE B DEFICIENCY (LDHBD)

Question 1

What is  LACTATE DEHYDROGENASE B DEFICIENCY (LDHBD)?

Accepted Answer

very rare

mutation in the LDHB gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 614128

Question 3

Which enzymes are involved?

Accepted Answer

L-lactate dehydrogenase B chain

Disease	LACTATE DEHYDROGENASE B DEFICIENCY (LDHBD)
OMIM	614128 OMIM = Online Mendelian Inheritance of Men
Orphanet	284435
Protein (UniProt)	L-lactate dehydrogenase B chain
ExPASy	1.1.1.27
Gene locus	12p12.1
ICD	E74.4
Summary	very rare mutation in the LDHB gene
Laboratory findings	Lactate dehydrogenase (LDH) dec (plasma)
Symptoms	no clinical symptoms (probably)