Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) Clinical Presentation

Updated: Nov 12, 2018
  • Author: Gerard T Berry, MD; Chief Editor: Maria Descartes, MD  more...
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Presentation

History

In all states, galactosemia is detected with a positive (ie, abnormal) newborn screening test result. [5]

Parents of newborns with galactosemia often complain to physicians about various feeding difficulties with their newborn, most notably vomiting. [1]

Almost all infants with galactosemia on a lactose-containing diet manifest poor weight gain. [1]

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Physical

Untreated infants with severely deficient galactose-1-phosphate uridyltransferase (GALT) activity typically present with the following variable findings:

  • Poor growth within the first few weeks of life
  • Jaundice
  • Bleeding from coagulopathy
  • Liver dysfunction and/or hepatomegaly
  • Cataracts (sometimes as early as the first few days of life)
  • Lethargy
  • Hypotonia
  • Sepsis ( E coli)
  • Seizures
  • Brain edema

Surprisingly, ascites may also be detected during early infancy. In some patients, ascites are detected as early as the first few days of life.

In an infant or child with cataracts, galactosemia must be excluded. If unsure, consult an ophthalmologist because some cataracts, especially congenital cataracts, are visible only by using a slitlamp.

Vitreous hemorrhage is a known complication of galactosemia, although its prevalence is unknown. [21] An enigmatic linkage of E coli sepsis with galactosemia is noted. Galactosemia should be high on the differential diagnoses in term infants with sepsis caused by infection with this pathogen.

Learning problems and speech and language deficits are common; language acquisition may be delayed. [22, 23, 24, 25, 26, 27, 28, 29]

The most common findings in adults include hypergonadotropic hypogonadism or primary ovarian insufficiency (POI) in women, although some women have become pregnant, [30] most notably black women, who probably have variant disease, but also white women with classic galactosemia. [1, 31, 32, 33, 34, 35, 36, 37, 38] Short stature and neurologic abnormalities (eg, tremor, ataxia, dystonia) also occur in a minority of patients. [1, 11, 39]

Rare reports of patients with severe galactosemia off of diet therapy since childhood have raised concerns about whether lactose restriction needs to be maintained after infancy. [40, 41]

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Causes

Classic galactosemia is caused by a severe deficiency in GALT.

The deficiency is an autosomal recessive genetic condition.

The gene for GALT is located on chromosome 9p13. [2, 42, 43]

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Complications

An international database is under construction. [44]

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