Galactosemia

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Galactosemia
Galactose Haworth.png
Galactose
ICD-10 E74.2
ICD-9 271.1
MeSH D005693

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Galactosemia

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Galactosemia is a rare genetic metabolic disorder which affects an individual's ability to properly metabolize the sugar galactose. In individuals with galactosemia, the enzymes needed for further metabolism of galactose are severely diminished or missing entirely, leading to toxic levels of galactose to build up in the blood, resulting in hepatomegaly (an enlarged liver), renal failure, cataracts, and brain damage.

Goppert first described the disease in 1917,[1] with its cause as a defect in galactose metabolism being identified by a group led by Herman Kalckar in 1956.[2]

Its incidence is about 1 per 47,000 births (classic type). It is much rarer in Japan and much more common in Italy, specifically the traveler region.

Cause

Lactose in food (such as dairy products) is broken down by the body into glucose and galactose.

In individuals with galactosemia, the enzymes needed for further metabolism of galactose are severely diminished or missing entirely, leading to toxic levels of galactose to build up in the blood, resulting in hepatomegaly (an enlarged liver), renal failure, cataracts, and brain damage. Without treatment, mortality in infants with galactosemia is about 75%.

Types

Galactose is converted into glucose by the action of three enzymes, known as the Leloir pathway. Accordingly, there are 3 known types of Galactosemia; type 1, 2 and 3:

Type Diseases Database OMIM Gene Locus Enzyme Name
Type 1 5056 230400 GALT 9p13 galactose-1-phosphate uridyl transferase classic galactosemia
Type 2 29829 230200 GALK1 17q24 galactokinase galactokinase deficiency
Type 3 29842 230350 GALE 1p36-p35 UDP galactose epimerase galactose epimerase deficiency, UDP-Galactose-4-epimerase deficiency

The order of these three types is not the same as the order that the enzymes are encountered by galactose on its metabolic path (which is closer to GALK, GALT, and then GALE, though many variations can occur.)

Diagnosis

Infants are now routinely screened for galactosemia in the United States, and the diagnosis is made while the person is still an infant.

Treatment

The only treatment for classic galactosemia is eliminating lactose and galactose from the diet. Even with an early diagnosis and a restricted diet, however, some individuals with galactosemia experience long-term complications such as speech difficulties, learning disabilities, neurological impairment (e.g. tremors, etc), and in girls, ovarian failure. These complications are treated if they appear in a manner similar to the way they would be treated in a non-galactosemic. Such complications have not been associated with Duarte galactosemia, and many individuals with Duarte galactosemia do not need to restrict their diet at all. Infants with classic galactosemia cannot be breast-fed due to lactose in human breast milk and are usually fed a soy-based formula.[3]

Galactosemia is sometimes confused with lactose intolerance, but galactosemia is a more serious condition. Lactose intolerant individuals have an acquired or inherited shortage of the enzyme lactase, and experience abdominal pains after ingesting dairy products, but no long-term effects. In contrast, a galactosemic individual who consumes galactose can cause permanent damage to their bodies.

Long term complication of galactosemia includes:

For a thorough scientific overview of galactosemia, one can consult chapter 72 of OMMBID[4]. For more online resources and references, see inborn error of metabolism.

References

  1. Goppert F. Galaktosurie nach Milchzuckergabe bei angeborenem, familiaerem chronischem Leberleiden. Klin Wschr 1917;54:473-477.
  2. Isselbacher KJ, Anderson EP, Kurahashi K, Kalckar HM (1956). "Congenital galactosemia, a single enzymatic block in galactose metabolism". Science 13 (123): 635-6. PMID 13311516.
  3. http://www.cdc.gov/breastfeeding/disease/contraindicators.htm
  4. Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (2006). The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill. - Free summaries of 255 chapters, full text through many universities and organizations. Also, the OMMBID blog.
Cost Effectiveness of Galactosemia

| group5 = Clinical Trials Involving Galactosemia | list5 = Ongoing Trials on Galactosemia at Clinical Trials.govTrial results on GalactosemiaClinical Trials on Galactosemia at Google


| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Galactosemia | list6 = US National Guidelines Clearinghouse on GalactosemiaNICE Guidance on GalactosemiaNHS PRODIGY GuidanceFDA on GalactosemiaCDC on Galactosemia


| group7 = Textbook Information on Galactosemia | list7 = Books and Textbook Information on Galactosemia


| group8 = Pharmacology Resources on Galactosemia | list8 = AND (Dose)}} Dosing of GalactosemiaAND (drug interactions)}} Drug interactions with GalactosemiaAND (side effects)}} Side effects of GalactosemiaAND (Allergy)}} Allergic reactions to GalactosemiaAND (overdose)}} Overdose information on GalactosemiaAND (carcinogenicity)}} Carcinogenicity information on GalactosemiaAND (pregnancy)}} Galactosemia in pregnancyAND (pharmacokinetics)}} Pharmacokinetics of Galactosemia


| group9 = Genetics, Pharmacogenomics, and Proteinomics of Galactosemia | list9 = AND (pharmacogenomics)}} Genetics of GalactosemiaAND (pharmacogenomics)}} Pharmacogenomics of GalactosemiaAND (proteomics)}} Proteomics of Galactosemia


| group10 = Newstories on Galactosemia | list10 = Galactosemia in the newsBe alerted to news on GalactosemiaNews trends on Galactosemia</small>


| group11 = Commentary on Galactosemia | list11 = Blogs on Galactosemia

| group12 = Patient Resources on Galactosemia | list12 = Patient resources on GalactosemiaDiscussion groups on GalactosemiaPatient Handouts on GalactosemiaDirections to Hospitals Treating GalactosemiaRisk calculators and risk factors for Galactosemia


| group13 = Healthcare Provider Resources on Galactosemia | list13 = Symptoms of GalactosemiaCauses & Risk Factors for GalactosemiaDiagnostic studies for GalactosemiaTreatment of Galactosemia

| group14 = Continuing Medical Education (CME) Programs on Galactosemia | list14 = CME Programs on Galactosemia

| group15 = International Resources on Galactosemia | list15 = Galactosemia en EspanolGalactosemia en Francais

| group16 = Business Resources on Galactosemia | list16 = Galactosemia in the MarketplacePatents on Galactosemia

| group17 = Informatics Resources on Galactosemia | list17 = List of terms related to Galactosemia


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