Classic galactosemia

MONDO:0009258

Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

Also known as: GALT deficiency, classic galactosemia, galactose-1-phosphate uridyltransferase deficiency, galactosemia type 1, classical galactosemia, homozygous duarte-type, Galt deficiency, galactose-1-phosphate uridylyltransferase deficiency, galactosemia

8 clinical trials for this condition and its sub-types, 3 tagged with Classic galactosemia itself.

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Where it sits in the disease tree

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Part of

↑ Inherited primary ovarian failure (47) ↑ Galactosemia (5) ↑ Disorder of galactose and fructose metabolism (4)

Including sub-types (8) Tagged with Classic galactosemia (3)

Trials to join now! 1 Completed 2

New study aims to unravel puberty and fertility challenges in girls with rare sugar disorder

Knowledge-focused Recruiting now

This study follows 60 girls and women with classic galactosemia, a rare genetic condition that affects how the body processes sugar. Researchers want to understand why many develop early ovarian failure and how puberty progresses. By tracking hormone levels and growth, they hope …

Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna • Aim: Knowledge-focused

Last updated Jun 27, 2026 11:00 UTC

Classic galactosemia

Where it sits in the disease tree

New study aims to unravel puberty and fertility challenges in girls with rare sugar disorder