Home > Health A – Z > Galactosemia

Galactosemia

A buildup of galactose in the blood caused by the lack of one of the enzymes needed to break down galactose.

PubMed Health Glossary
(Source: NIH - National Institute of Diabetes and Digestive and Kidney Diseases)

What works? Research summarized

Evidence reviews

Newborn Blood Spot Screening for Galactosemia, Tyrosinemia Type I, Homocystinuria, Sickle Cell Anemia, Sickle Cell/Beta-Thalassemia, Sickle Cell/Hemoglobin C Disease and Severe Combined Immunodeficiency: Costs and Cost Analysis [Internet]

This STE report examines the safety, screening accuracy, therapeutic efficacy/effectiveness, cost-effectiveness, budget impact, and health system readiness of newborn screening for seven conditions (galactosemia, tyrosinemia type I, homocystinuria, sickle cell anemia, sickle cell/beta-thalassemia, sickle cell/hemoglobin C disease, and severe combined immunodeficiency), contextualized to the Alberta setting.

Screening newborn babies for galactosaemia

We reviewed the evidence for screening newborn babies for galactosaemia in order to prevent or reduce death and illness, to improve clinical outcomes in affected babies and to improve the quality of life in affected older children.

Drug Class Review: Constipation Drugs: Final Report [Internet]

Chronic constipation is a disorder characterized by unsatisfactory defecation that results from infrequent stools, difficult stool passage, or both over a time period of at least 12 weeks. In this report, we review the general and comparative effectiveness, safety, and tolerability of drugs for chronic constipation. Our review covers the use of the following in adults and children with chronic constipation and Irritable Bowel Syndrome, constipation-predominant (IBS-C): docusate calcium, docusate sodium, lactulose, lubiprostone, polyethylene glycol 3350, psyllium, and tegaserod.

See all (8)

Summaries for consumers

Screening newborn babies for galactosaemia

We reviewed the evidence for screening newborn babies for galactosaemia in order to prevent or reduce death and illness, to improve clinical outcomes in affected babies and to improve the quality of life in affected older children.

More about Galactosemia

Photo of a young adult

Also called: Galactosaemia

Other terms to know:
Enzymes, Galactose

Keep up with systematic reviews on Galactosemia:

Create RSS

PubMed Health Blog...

read all...