Galactokinase Deficiency

Description

Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.

Clinical Features

Top most frequent phenotypes and symptoms related to Galactokinase Deficiency

  • Intellectual disability
  • Cataract
  • Hypogonadism
  • Hypergonadotropic hypogonadism
  • Hyperbilirubinemia
  • Increased intracranial pressure
  • Prolonged neonatal jaundice
  • Hypergalactosemia
  • Presenile cataracts
  • Galactosuria

And another 1 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Galactokinase Deficiency Is also known as galactosemia type 2, galk deficiency, galactokinase deficiency galactosemia, galk-d, galactosemia ii.

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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Galactokinase 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 %
GALK1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GALK1
Specificity
100 %
Genes
100 %
GALK1 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GALK1
Specificity
100 %
Genes
100 %
GALK1 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GALK1
Specificity
100 %
Genes
100 %
GALK1 Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GALK1
Specificity
100 %
Genes
100 %
GALK1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GALK1
Specificity
100 %
Genes
100 %
GALK1 Gene Sequencing.

By GeneDx (United States).

GALK1
Specificity
100 %
Genes
100 %
GALK1. Complete sequencing.

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

GALK1
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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