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Title
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Galactokinase Deficiency
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ImagePath
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System
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carbohydrate − galactose metabolism (galactokinase)
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Overview
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Autosomal‑recessive deficiency of galactokinase causing accumulation of galactitol.
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Pathophysiology
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Absent galactokinase blocks galactose → galactose‑1‑P step. Aldose reductase converts excess galactose to galactitol → osmotic damage in lens & retina.
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Presentation
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Infantile cataracts (failure to track objects, no social smile), occasional pseudotumor cerebri; otherwise mild.
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Diagnosis
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Reducing substances in urine, normal plasma galactose‑1‑P; enzymatic or GALK1 genetic testing.
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Management
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Dietary restriction of galactose and lactose. Early treatment prevents cataracts.
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Epidemiology
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Rare (<1 : 100 000). Higher prevalence in Roma populations.
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Tags
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