Reference results for Galactokinase_deficiency from Search.com.

Galactokinase Deficiency: Background, Pathophysiology ...

emedicine.medscape.com/article/943978-overview

As with all hexose sugars, metabolism of ingested galactose requires an initial phosphorylation of the molecule using adenosine triphosphate (ATP). Unlike ...

Galactokinase deficiency - Wikipedia, the free encyclopedia

https://en.wikipedia.org/wiki/Galactokinase_deficiency

Galactokinase deficiency is an autosomal recessive disorder, [4] which means the defective gene responsible for the disorder is located on an autosome (chromosome 17 ...

Galactokinase deficiency | Disease | Overview | Genetic ...

https://rarediseases.info.nih.gov/gard/2422/galactokinase...

Galactokinase deficiency, or galactosemia type 2, is a type of galactosemia that affects how the body processes a simple sugar called galactose.

OMIM Entry - # 230200 - GALACTOKINASE DEFICIENCY

omim.org/entry/230200

Clinical Synopsis : TEXT: A number sign (#) is used with this entry because galactokinase deficiency is caused by homozygous or heterozygous mutation in the GALK1 ...

Conditions Galactokinase Deficiency - Baby's First Test

www.babysfirsttest.org/.../conditions/galactokinase-deficiency

Galactokinase deficiency (GALK) is an inherited condition in which the body is unable to properly digest galactose, a sugar found in all foods that contain milk and ...

Galactokinase deficiency - GeneDx

www.genedx.com/test-catalog/disorders/galactokinase-deficiency

Tests Available. GALK1 Gene Sequencing; GALK1 Del/Dup; GALK1 Gene Sequencing FORMS AND DOCUMENTS. Test Info Sheet; Test Requisition; Informed Consent; TEST DETAILS

Galactokinase deficiency Symptoms, Diagnosis, Treatments ...

www.rightdiagnosis.com/g/galactokinase_deficiency/intro.htm

Galactokinase deficiency information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.

Galactokinase Deficiency in a Patient with Congenital ...

www.ncbi.nlm.nih.gov/pmc/articles/PMC3509914

Background: Galactokinase catalyses the first committed step in galactose metabolism, the conversion of galactose to galactose-1-phosphate. Galactokinase ...

Galactokinase Deficiency | Hereditary Ocular Diseases

disorders.eyes.arizona.edu/disorders/galactokinase-deficiency

This website contains a database of hereditary disorders with important ocular features. It is a point-of-service portal site, designed specifically for clinical ...

Galactokinase deficiency | definition of galactokinase ...

medical-dictionary.thefreedictionary.com/galactokinase+deficiency

Physicians do not routinely screen for galactokinase deficiency, and in any case they would interpret the levels seen in the "low" group as normal by current standards.