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Health library/Galactosemia

Rare metabolic disorders / RARE CONDITION

Galactosemia

Also known as: Classic galactosemia, Epimerase deficiency galactosemia, Galactokinase deficiency disease, Galactose epimerase deficiency, Galactose-1-phosphate uridyl-transferase deficiency disease, GALE deficiency

Galactosemia impairs processing of galactose, a sugar found within lactose and other foods. Severe forms can cause serious illness soon after feeding begins in infancy.

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What you may notice

Symptoms can overlap with other conditions and vary between people.

  • Poor feeding
  • Vomiting
  • Jaundice
  • Poor weight gain

Understanding care

Clinical care may include urgent metabolic assessment and a professionally prescribed nutritional and monitoring plan. A qualified clinician decides which investigations and options fit the individual situation.

When to seek help

Poor feeding, repeated vomiting or unusual drowsiness in a person at risk needs urgent medical assessment. Confusion, seizures, breathing changes or collapse is an emergency; use an existing prescribed illness plan.

For severe breathing difficulty, collapse, suspected stroke, or another emergency, call local emergency services immediately. In India, call 112.

Read the medical sources

These sources support the educational article and offer more detail.

Educational reading · Updated 6 October 2026

Prepared from the linked sources. This summary has not had an independent clinician review. A qualified clinician can assess symptoms and explain which information applies to you.

A child and a caring grown-up reading a picture book together

LITTLE PEOPLE. BIG FEELINGS.

It’s okay to have
a lot of questions.

A doctor visit or an unfamiliar health word can feel scary. You can ask a trusted grown-up to help you understand, one small question at a time.

01

Say how you feel.

“I feel worried” is a good place to start.

02

Ask for simple words.

“Can you explain that in a way I understand?”

03

Bring someone you trust.

A caring adult can help you ask and listen.

For children and their grown-ups. This illustration explains a conversation, not a diagnosis. An adult should seek qualified care for a child who is unwell.

Galactosemia — First AID health library