Pathway

Defective GALM causes GALAC4

GALM is a cytosolic enzyme that catalyzes the interconversion of beta-D-galactose to alpha-D-galactose. GALM conversion of b-GAL to a-GAL is required prior to a-GAL phosphorylation by galactokinase (GALK), the first committed step of galactose catabolism.

Mutations in GALM are associated with galactosemia type 4 (MIM 618881). Affected individuals generally present with mild symptoms which may include abnormal galactose levels, transient cholestasis and cataracts; more severe cases are associated with damage to kidney, liver and brain (Wada et al, 2019; Iwasawa et al, 2019; reviewed in Banford and Timson, 2021; Kikuchi et al, 2021).

Summary from Reactome (R-HSA-9931929), read 2026-09-23.

REACT:R-HSA-9931929Reactome

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What the reference databases state

Statements

1 statement

1 statement · 1 reference database · Subject: Defective GALM causes GALAC4 · Sources: Reactome

Order

GALM participates in Defective GALM causes GALAC4ProteinReactome R-HSA-9931929Inferred only