GALACTOSEMIA III (GALE-D)

Question 1

What is  GALACTOSEMIA III (GALE-D)?

Accepted Answer

rare(1:6200 - 1:64800)
autosomal recessive
mutation in the UDP-galactose-4-epimerase gene
Milk-fed newborns with the mild form .. are well and have neither hyper-galactosemia, nor galactosuria, nor hyperaminoaciduria (Gitzelmann 1996). Severe forms of Galactosemia III has been reported by Holton et al. (1981) and Henderson et al. (1983).

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Galaktosämie Typ 3; Galaktosämischer Epimerase-Mangel; GALE-D

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 230350

Question 4

Which enzymes are involved?

Accepted Answer

UDP-glucose 4-epimerase

Disease	GALACTOSEMIA III (GALE-D)
Synonym	GALE DEFICIENCY; GALACTOSE EPIMERASE DEFICIENCY
OMIM	230350 OMIM = Online Mendelian Inheritance of Men
Orphanet	79238
Protein (UniProt)	UDP-glucose 4-epimerase
ExPASy	5.1.3.2
Gene locus	1p36.11
ICD	E74.2
Summary	rare(1:6200 - 1:64800) autosomal recessive mutation in the UDP-galactose-4-epimerase gene Milk-fed newborns with the mild form .. are well and have neither hyper-galactosemia, nor galactosuria, nor hyperaminoaciduria (Gitzelmann 1996). Severe forms of Galactosemia III has been reported by Holton et al. (1981) and Henderson et al. (1983).
Laboratory findings	D-Galactose normal/inc (serum) D-Galactose normal/inc (urine) Galactose-1-phosphate inc (erythrocytes) Transaminases (ASAT/ALAT) normal/inc (plasma) Uridine diphosphate galactose-4-epimerase dec (erythrocytes)
Symptoms	aminoaciduria liver failure Amino acids, urine cataract failure to thrive hearing defect, deafness hepatomegaly (large liver) hypotonia jaundice mental retardation motor retardation no clinical symptoms (probably) onset, infancy onset, neonatal speech development, delayed, abnormal splenomegaly (large spleen) vomiting