Galactose Epimerase Deficiency

Description

Epimerase-deficiency galactosemia was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells (Gitzelmann, 1972). Fibroblasts, liver, phytohemagglutinin-stimulated leukocyes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal GALT activity, presented with symptoms reminiscent of classic galactosemia and demonstrated severely impaired GALE activity in both red blood cells and fibroblasts (Holton et al., 1981). This form was designated 'generalized' epimerase deficiency. Openo et al. (2006) demonstrated that epimerase deficiency is in fact not a binary condition but is, rather, a continuum disorder.GALE encodes the third enzyme in the Leloir pathway of galactose metabolism. Galactosemia I is classic galactosemia (OMIM ), caused by deficiency of the second enzyme in the Leloir pathway, galactose-1-phosphate uridylyl-transferase (GALT ). Galactosemia II (OMIM ) is caused by deficiency of the first enzyme in the Leloir pathway, galactokinase (GALK ).

Clinical Features

Top most frequent phenotypes and symptoms related to Galactose Epimerase Deficiency

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cataract
  • Feeding difficulties

And another 14 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Galactose Epimerase Deficiency Is also known as udp-galactose-4-epimerase deficiency, gale deficiency, galactosemia iii.

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.


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Galactose Epimerase Deficiency 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 %
GALE Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

GALE
Specificity
100 %
Genes
100 %
GALE Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GALE
Specificity
100 %
Genes
100 %
GALE Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GALE
Specificity
100 %
Genes
100 %
GALE. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

GALE
Specificity
100 %
Genes
100 %
Galactosemia type III (sequence analysis of GALE gene).

By CGC Genetics (Portugal).

GALE
Specificity
100 %
Genes
100 %

We have 27 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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