GALACTOSEMIA II (GALK-D)

rare (<1:100000) autosomal recessive mutation in the GALK1 gene

Question 1

What is  GALACTOSEMIA II (GALK-D)?

Accepted Answer

rare (<1:100000)
autosomal recessive
mutation in the GALK1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Galaktosämie; GALK

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 230200

Question 4

Which enzymes are involved?

Accepted Answer

galactokinase

Disease	GALACTOSEMIA II (GALK-D)
Synonym	GALAKTOKINASE DEFICIENCY; GALACTOKINASE DEFICIENCY
OMIM	230200 OMIM = Online Mendelian Inheritance of Men
Orphanet	352
Protein (UniProt)	galactokinase
ExPASy	2.7.1.6
Gene locus	17q25.1
ICD	E74.2
Summary	rare (<1:100000) autosomal recessive mutation in the GALK1 gene
Laboratory findings	D-Galactose inc (plasma) D-Galactose inc (urine) Galactitol inc (urine) Galactokinase dec (erythrocytes) reducing substances, urine (Clinitest) inc (urine)
Symptoms	cataract pseudotumor cerebri mental retardation nystagmus onset, infancy psychomotor retardation speech development, delayed, abnormal