LACTASE DEFICIENCY, CONGENITAL

Question 1

What is  LACTASE DEFICIENCY, CONGENITAL?

Accepted Answer

rare, increased frequency in Finland
autosomal recessive

mutation in the LCT gene

CLD is associated with mutations in the translated region of the LPH gene [Wanes D et al. 2019]

most common form of genetically disaccharide deficiency, down-regulation of the lactase enzyme activity in the intestinal wall after weaning

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Angeborener Laktasemangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 223000

Question 4

Which enzymes are involved?

Accepted Answer

Lactase-phlorizin hydrolase

Disease	LACTASE DEFICIENCY, CONGENITAL
Synonym	DISACCHARIDE INTOLERANCE II; LACTASE DEFICIENCY, PRIMARY; LPH
OMIM	223000 OMIM = Online Mendelian Inheritance of Men
Orphanet	53690
Protein (UniProt)	Lactase-phlorizin hydrolase
ExPASy	3.2.1.108
Gene locus	2q21.3
ICD	E73.0
Summary	rare, increased frequency in Finland autosomal recessive mutation in the LCT gene CLD is associated with mutations in the translated region of the LPH gene [Wanes D et al. 2019] most common form of genetically disaccharide deficiency, down-regulation of the lactase enzyme activity in the intestinal wall after weaning
Laboratory findings	Calcium inc (serum) Calcium inc (urine)
Symptoms	dehydration diarrhea metabolic acidosis nephrocalcinosis onset, infancy onset, neonatal weight loss