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Professional Technical IVT

GALE deficiency

Pronunciation: GAIL

Also written as: GALE — Galactokinase and UDP-galactose-4-epimerase

Galactokinase deficiency and UDP-galactose-4-epimerase deficiency, rare variants of galactosemia detected through enzyme testing.

Full Definition

GALE deficiency refers to deficiencies in galactokinase (type II galactosemia) or UDP-galactose-4-epimerase (type III galactosemia), which are much rarer than classical galactosemia. These conditions may be missed by total galactose screening and require specific enzyme activity measurements for detection. Galactokinase deficiency primarily causes cataracts, while epimerase deficiency has variable presentations ranging from benign to severe multisystem disease.

Usage

Usage note: Distinguish from classical GALT deficiency; specify which enzyme when known.

In Context

  • "Enzyme testing revealed GALE deficiency despite normal total galactose levels." — diagnostic report
  • "GALE deficiency variants require different dietary management than classical galactosemia." — treatment guideline

Also known as

galactokinase deficiency epimerase deficiency type II galactosemia type III galactosemia

Don't confuse with

classical galactosemia Duarte variant
galactosemia ← Back to glossary GALT enzyme

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