Galactosemia

Description

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 complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by Bosch, 2006).

Clinical Features

Top most frequent phenotypes and symptoms related to Galactosemia

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia

And another 66 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available GALACTOSEMIA have a estimated birth prevalence of 2 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Galactosemia Is also known as galactose-1-phosphate uridylyltransferase deficiency, galt deficiency, galactosemia, classic.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Galactosemia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
GALT Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GALT
Specificity
100 %
Genes
100 %
GALT Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GALT
Specificity
100 %
Genes
100 %
GALT Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GALT
Specificity
100 %
Genes
100 %
GALT Sequence and Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GALT
Specificity
100 %
Genes
100 %
GALT Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GALT
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %

You can get up to 73 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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