Galactosemia (Galactokinase Deficiency): GALK1 Gene Deletion/Duplication

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Condition Description

Galactokinase (GALK) deficiency is one of the three known forms of galactosemia, along with galactose-1-phosphate uridylyltransferase (GALT) deficiency (classic galactosemia) and UDP-galactose-4'-epimerase (GALE) deficiency [1-2]. GALK deficiency is an autosomal recessive disorder characterized by an elevation of blood galactose concentration and diminished galactose-1-phosphate concentration, leading to production of alternative metabolic products such as galactitol [3]. Galactokinase-deficiency may present in the neonatal period with cataracts; no other clinical complications have been consistently associated with GALK-deficiency [2].

GALK deficiency should be considered in individuals with cataracts, elevated red cell galactose, galactosuria, or elevated urinary galactitol and normal GALT enzyme activity. GALK activity is used to rule-out variant galactosemia due to galactokinase deficiency which should not be confused with classical galactosemia secondary to GALT deficiency, or epimerase-deficiency galactosemia secondary to GALE deficiency. The vast majority of patients with biochemical diagnosis of GALK deficiency have mutations in the GALK1 (17q25) gene [4-6]. Gene sequence analysis is available to test for mutations in the GALK1 gene in patients with a biochemical diagnosis of GALK deficiency (IQ).

Visit for patient-friendly information on galactosemia.

Click here for the GeneReviews summary on this condition. Also, refer to the Comprehensive Galactosemia Panel for a disease overview.

1. Fridovich-Keil JL. Galactosemia: the good, the bad, and the unknown. J Cell Physiol 2006, 209(3):701-5.
2. Holton et al. Galactosemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp. 1559-1561 (2001).
3. Gitzelmann R. Deficiency of erythrocyte galactokinase in a patient with galactose diabetes, Lancet 2:670-671, 1965.
4. Sangiuolo et al. Biochemical Characterization of Two GALK1 Mutations in Patients with Galactokinase Deficiency Hum Mutat 2004 Apr;23(4):396-403
5. Park et al. Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency. Mol Genet Metab. 2007. 91:234-8
6. Timson and Reece. Functional analysis of disease-causing mutations in human galactokinase Eur J Biochem. 2003. 270:1767-74
7. Thoden and Holden. The Molecular Architecture of Human N-Acetylgalactosamine Kinase. J Biol Chem 280(38):32784-32791, 2005.
8. Kolosha et al. Novel mutations in 13 probands with galactokinase deficiency. Hum Mutat 2000;15(5):447-53.

Genes (1)

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This test is indicated for:

  • Individuals with elevated blood galactose but with normal GALT and GALE enzyme activities.
  • Carrier testing for individuals with a family history of GALK deficiency.


Detection is limited to duplications and deletions. Array CGH will not detect point mutations or intronic mutations.

Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.


The vast majority of patients with clinical and biochemical diagnosis will have an abnormal DNA test.
Clinical Sensitivity: 26/26 mutations identified in 13 patients [8], 4/4 mutations identified in 2 patients [9].
Analytical Sensitivity: ~99%Results of molecular analysis must be interpreted in the context of the patient's clinical and/or biochemical phenotype.

Specimen Requirements

When sample fails to meet the acceptable criteria, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (

Submit only 1 of the following specimen types

Preferred specimen type: Whole Blood

Type: Whole Blood

Specimen Requirements:

In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml

Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.

Type: Saliva

Specimen Requirements:

OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.

Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.

Special Instructions

Submit copies of diagnostic biochemical test results with the sample. Sequence analysis is required before deletion/duplication analysis by targeted CGH array. If sequencing is performed outside of EGL Genetics, please submit a copy of the sequencing report with the test requisition.

  • GALT and GALE Gene Sequencing for transferase deficient and epimerase deficient galactosemia
  • Comprehensive Galactosemia Panel includes: GALT enzyme activity, isozyme pattern, gal-1-P concentration
  • Urine Galactitol Concentration
  • Custom Diagnostic Mutation Analysis (KM) is available to family members if mutations are identified by sequencing.
  • Prenatal testing is available for known familial mutations only. Please call the Laboratory Genetic Counselor before collecting a fetal sample.

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