Classic galactosemia

General Information (adopted from Orphanet):

Synonyms, Signs: GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY
GALACTOSEMIA, CLASSIC GALACTOSEMIA, DUARTE VARIANT
galt deficiency
Galactosemia type 1
Galactose-1-phosphate uridyltransferase deficiency
Number of Symptoms 43
OrphanetNr: 79239
OMIM Id: 230400
ICD-10: E74.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Galactosemia
 -Rare eye disease
 -Rare genetic disease
 -Rare hepatic disease
 -Rare renal disease
Non-acquired premature ovarian failure
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
(HPO:0008209) Premature ovarian failure 28 / 7739
2
(HPO:0003355) Aminoaciduria 65 / 7739
3
(HPO:0000789) Infertility Frequent [Orphanet] 74 / 7739
4
(HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
5
(HPO:0000080) Abnormality of reproductive system physiology Very frequent [Orphanet] 6 / 7739
6
(HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
7
(HPO:0011442) Abnormality of central motor function Frequent [Orphanet] 76 / 7739
8
(HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
9
(HPO:0001337) Tremor Frequent [Orphanet] 200 / 7739
10
(HPO:0004372) Reduced consciousness/confusion Very frequent [Orphanet] 73 / 7739
11
(HPO:0100022) Abnormality of movement Occasional [Orphanet] 129 / 7739
12
(HPO:0001249) Intellectual disability 1089 / 7739
13
(HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
14
(HPO:0002015) Dysphagia Very frequent [Orphanet] 301 / 7739
15
(HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
16
(HPO:0001410) Decreased liver function 59 / 7739
17
(HPO:0002240) Hepatomegaly 467 / 7739
18
(HPO:0100626) Chronic hepatic failure Very frequent [Orphanet] 7 / 7739
19
(HPO:0001396) Cholestasis Very frequent [Orphanet] 136 / 7739
20
(HPO:0002013) Vomiting 191 / 7739
21
(HPO:0001399) Hepatic failure Very frequent [Orphanet] 80 / 7739
22
(HPO:0001394) Cirrhosis 102 / 7739
23
(HPO:0002014) Diarrhea 225 / 7739
24
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
25
(HPO:0001508) Failure to thrive 454 / 7739
26
(HPO:0001878) Hemolytic anemia 83 / 7739
27
(HPO:0012023) Galactosuria 5 / 7739
28
(HPO:0004918) Hyperchloremic metabolic acidosis 6 / 7739
29
(HPO:0001942) Metabolic acidosis 81 / 7739
30
(HPO:0001943) Hypoglycemia Occasional [Orphanet] 131 / 7739
31
(HPO:0012024) Hypergalactosemia 6 / 7739
32
(HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
33
(HPO:0100806) Sepsis Frequent [Orphanet] 48 / 7739
34
(HPO:0011420) Death Occasional [Orphanet] 184 / 7739
35
(OMIM) Mental retardation if untreated 5 / 7739
36
(OMIM) In untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria 1 / 7739
37
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
38
(OMIM) Decreased liver function, progressive 1 / 7739
39
(OMIM) Cirrhosis if untreated 1 / 7739
40
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
41
(OMIM) Speech abnormality if untreated 1 / 7739
42
(OMIM) Ovarian failure due to hypergonadotropic hypogonadism 1 / 7739
43
(OMIM) Galactose-1-phosphate uridyltransferase deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term ...
Diagnosis OMIM On the basis of a screening of newborns in Massachusetts, Shih et al. (1971) found only 2 cases of galactosemia among 374,341 births. Both infants died with E. coli sepsis in the neonatal period. Since E. coli sepsis ...
Clinical Description OMIM The first detailed description of galactosemia was given by Goppert (1917). The proband (A.G.) presented with large liver, icterus, failure to thrive, and urinary excretion of albumen and sugar. After exclusion of galactose from the diet, these signs ...
Genotype-Phenotype Correlations OMIM Elsas et al. (1995) described a strategy for identifying new mutations in the GALT gene. A total of 12 new and 21 previously reported rare mutations were found. Among the novel group of 12 new mutations, an unusual ...
Molecular genetics OMIM Elsas and Lai (1998) stated that more than 130 mutations in the GALT gene (606999) had been associated with GALT deficiency. Two common mutations, Q188R (606999.0006) and K285N (606999.0013), accounted for more than 70% of galactosemia-producing alleles in ...
Population genetics OMIM - Classic Galactosemia

Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988). Tyfield et al. (1999) stated that by the end of 1998 more than 150 different base changes in the ...