GALACTOSEMIA (GALT-D)

Question 1

What is  GALACTOSEMIA (GALT-D)?

Accepted Answer

rare (1:35000 - 60000)
autosomal recessive

mutation in the galactose-1-phosphate uridylyltransferase gene

Neonatal symptoms usually resolve after galactose-restricted diet; however, some patients, despite the diet, can develop long-term complications [Viggiano E et al. 2019]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Galaktosämie, klassische; Galaktosämie Typ 1; Galaktose-1-Phosphat-Uridyltransferase-Mangel; GALT

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 230400

Question 4

Which enzymes are involved?

Accepted Answer

Galactose-1-phosphate uridylyltransferase

Disease	GALACTOSEMIA (GALT-D)
Synonym	GALT
OMIM	230400 OMIM = Online Mendelian Inheritance of Men
Orphanet	79239
Protein (UniProt)	Galactose-1-phosphate uridylyltransferase
ExPASy	2.7.7.12
Gene locus	9p13.3
ICD	E74.2
Summary	rare (1:35000 - 60000) autosomal recessive mutation in the galactose-1-phosphate uridylyltransferase gene Neonatal symptoms usually resolve after galactose-restricted diet; however, some patients, despite the diet, can develop long-term complications [Viggiano E et al. 2019]
Laboratory findings	D-Galactose inc (plasma) Galactitol inc (urine) D-Galactose inc (urine) Bilirubin inc (serum) Chloride inc (serum) D-Galactonic acid inc (urine) D-Glucose dec (serum) D-Sorbitol inc (urine) Galactitol inc (plasma) Galactose-1-phosphate inc (serum) Galactose-1-phosphate uridyltransferase dec (erythrocytes) Hemoglobine normal/dec (blood) Partial Thromboplastin Time (PTT) inc (blood) Protein inc (urine) Quick dec (blood) reducing substances, urine (Clinitest) inc (urine) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	anorexia hepatomegaly (large liver) liver failure ovarian failure sepsis vomiting anemia cataract cerebral edema cirrhosis or fibrosis of liver early death hemolytic anemia hypogonadism intellectual disability/intellectual developmental disorder seizures Amino acids, urine ascites behavior, anxiety cholestasis Coagulopathy/Coagulation factors diarrhea dysarthria dystonia encephalopathy failure to thrive Fanconi syndrome feeding difficulties, poor feeding gallstones, cholelithiasis hypoglycemia jaundice learning disability lethargy, drowsiness, apathy liver involvement or dysfunction mental retardation metabolic acidosis onset, infancy onset, neonatal speech development, delayed, abnormal splenomegaly (large spleen) tubulopathy weight loss