galactosaemia

Also known as

  • Epimerase deficiency galactosemia Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Galactose epimerase deficiency GALT Deficiency UDP-Galactose-4-Epimerase Deficiency Disease UDPglucose 4-Epimerase Deficien

Galactosemia is a disorder that affects how the body processes a simple sugar called galactose.

Condition details

If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Affected infants typically develop feeding difficulties, a lack of energy, a failure to gain weight and grow as expected, yellowing of the skin and whites of the eyes, liver damage, and bleeding. Other serious complications of this condition can include overwhelming bacterial infections and shock. Affected children are also at increased risk of delayed development, clouding of the lens of the eye, speech difficulties, and intellectual disability. Females with classic galactosemia may experience reproductive problems caused by ovarian failure.

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Affected genes identified to date

  • q188r 98 GALE
  • GALK
  • GALT

Inheritance patterns

Is Autosomal recessive

Are carriers affected?

no

How many are affected?

1 in 30,000 to 60,000

Support groups and organisations

No groups found

Known experts

No experts found

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