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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Galactosemia


Other Names for this Disease

  • Galactose-1-phosphate uridyltransferase deficiency
  • Galactosemia, classic
  • GALT deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of galactosemia?

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, diarrhea, vomitting, a lack of energy, failure to thrive, jaundice, liver damage, and bleeding. Other serious complications can include overwhelming bacterial infections (sepsis) and shock. Affected children are also at increased risk of developmental delay, cataract, speech difficulties, and intellectual disability. Females with classic galactosemia may experience reproductive problems caused by ovarian failure.[1]

Galactosemia type II causes fewer medical problems than the classic type. Affected infants may develop cataracts, but otherwise usually experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.[1]
Last updated: 5/27/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Galactosemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Chronic hepatic failure 90%
Cognitive impairment 90%
Feeding difficulties in infancy 90%
Hepatic failure 90%
Nausea and vomiting 90%
Reduced bone mineral density 90%
Reduced consciousness/confusion 90%
Weight loss 90%
Abnormality of coagulation 50%
Abnormality of the voice 50%
Ascites 50%
Cataract 50%
Decreased fertility 50%
Edema of the lower limbs 50%
Hepatomegaly 50%
Muscular hypotonia 50%
Neurological speech impairment 50%
Sepsis 50%
Tremor 50%
Abnormality of the genital system 7.5%
Hemolytic anemia 7.5%
Hypoglycemia 7.5%
Incoordination 7.5%
Microcephaly 7.5%
Renal insufficiency 7.5%
Seizures 7.5%
Visual impairment 7.5%
Aminoaciduria -
Autosomal recessive inheritance -
Cirrhosis -
Decreased liver function -
Diarrhea -
Failure to thrive -
Galactosuria -
hyperchloremic metabolic acidosis -
Hypergalactosemia -
Hypergonadotropic hypogonadism -
Intellectual disability -
Metabolic acidosis -
Premature ovarian failure -
Vomiting -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Galactosemia. Genetics Home Reference. January 2008; http://www.ghr.nlm.nih.gov/condition=galactosemia. Accessed 6/9/2011.


Other Names for this Disease
  • Galactose-1-phosphate uridyltransferase deficiency
  • Galactosemia, classic
  • GALT deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.