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galactosemia - inherited defect in digesting galactose
Definition for galactosemia
Galactosemia is a rare genetic metabolic disorder which affects an individual's ability to properly digest the sugar galactose.
more
Galactosemia is a rare genetic metabolic disorder which affects an individual's ability to properly digest the sugar galactose. Lactose in food (such as dairy products) is broken down by the body into glucose and galactose. Normally, galactose is then converted into glucose by the enzyme GALT (galactose-1-phosphate uridyl transferase). In individuals with galactosemia, GALT activity is severely diminished, 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%.
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some common symptoms
convulsions
delayed development
vomiting
yellow color of skin and eyes
some related diagnoses
1 - 7 of
43
diagnoses
drugs and toxins
alcoholism
intracranial arteriovenous malformations
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do i have 'galactosemia'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'galactosemia'
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14
diagnostic tests
Newborn Screening
galactosemia and Newborn Screening
erythrocyte GALT analysis
galactosemia and erythrocyte GALT analysis
Liver Function Tests
elevated liver enzymes
galactosemia and Liver Function Tests
Total bilirubin
galactosemia and Total bilirubin
Urinalysis
Examination of urine to detect disease
galactosemia and Urinalysis
direct bilirubin
galactosemia and direct bilirubin
language and speech evaluation
galactosemia and language and speech evaluation
urine reducing substances
galactosemia and urine reducing substances
urine amino acids
galactosemia and urine amino acids
Brain MRI
galactosemia and Brain MRI
Molecular Genetic Studies
galactosemia and Molecular Genetic Studies
Clinitest urine
galactosemia and Clinitest urine
neonatal direct bilirubin
galactosemia and neonatal direct bilirubin
neonatal total bilirubin
galactosemia and neonatal total bilirubin
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therapeutic procedures for 'galactosemia'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for galactosemia:
therapeutic procedure search results for 'galactosemia'
1 - 4 of
4
therapeutic procedures
rankings are computer generated. please consult your health care provider.
discontinue galactose in diet
galactosemia and discontinue galactose in diet
Fetal therapy
galactosemia and Fetal therapy
Nutritional counseling
galactosemia and Nutritional counseling
diet modification
galactosemia and diet modification
medications search results for 'galactosemia'
rankings are computer generated. please consult your health care provider.
web search results for galactosemia
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1 - 50
- galactosemia
Galactosemia
Galactosemia is the inability of the body to use (metabolize) the simple sugar ... Individuals with galactosemia cannot tolerate any form of milk (human or animal) ...
http://adam.about.com/encyclopedia/infectiousdiseases/Galactosemia.htm
adam.about.com
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summary
Galactose-1-phosphate uridylyltransferase galactosemia - Wikipedia, the ...
One variant causes so-called classic galactosemia, in which there is an extreme ... galactose/galactosemia : Galactokinase deficiency - Galactose-1-phosphate ...
http://en.wikipedia.org/wiki/Galactose-1-phosphate_uridylylt...
en.wikipedia.org
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summary
Galactosemia - Genetics Home Reference
Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. ... Mutations in the GALE, GALK1, and GALT genes cause galactosemia. ...
http://ghr.nlm.nih.gov/condition=galactosemia
ghr.nlm.nih.gov
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Galactosemia - Yahoo! Health
Important It is possible that the main title of the report Galactosemia is not the name you expected. Please check the synonyms listing to find the alternate name ...
http://health.yahoo.com/other-other/galactosemia/healthwise--nord373.html
health.yahoo.com
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American Liver Foundation - Galactosemia
The Web Site of the American Liver Foundation. ... Galactosemia means too much galactose builds up in the blood. ... 75% of infants with galactosemia will die. ...
http://www.liverfoundation.org/education/info/galactosemia/
www.liverfoundation.org
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Galactosemia -- GeneReviews -- NCBI Bookshelf
Galactosemia is a disorder of galactose metabolism that can result in life ... A female with galactosemia is at increased risk for premature ovarian failure. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=galactosemia
www.ncbi.nlm.nih.gov
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MedlinePlus Medical Encyclopedia: Galactosemia
The alternate names, a summary and list of major features of galactocerebrosidase deficiency. ... Galactosemia is an inherited enzyme disorder (transmitted as ...
http://www.nlm.nih.gov/medlineplus/ency/article/000366.htm
www.nlm.nih.gov
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Galactosemia - Wikipedia, the free encyclopedia
Galactosemia is a rare genetic metabolic disorder which affects an individual's ... Congenital galactosemia, a single enzymatic block in galactose metabolism" ...
http://en.wikipedia.org/wiki/Galactosemia
en.wikipedia.org
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summary
Galactosemia
Galactosemia is the inability of the body to use () the simple sugar galactose ... Galactosemia. Milk and Infections -- A Guide to Milk-borne Infectious Diseases ...
http://adam.about.com/encyclopedia/000366trt.htm
adam.about.com
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American Liver Foundation - Related Terms - Galactosemia
The Web Site of the American Liver Foundation. ... Galactosemia ... Galactosemia. Galactosemia is an inherited disorder that prevents a person from processing the ...
http://www.liverfoundation.org/tags/Galactosemia
www.liverfoundation.org
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Galactosemia (65-70)
Essentials of Glycobiology provides a comprehensive presentation of glycobiology ... 32.5 UDP-Gal synthesis and galactosemia. The...
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=glyco.section.2377
www.ncbi.nlm.nih.gov
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MedlinePlus Medical Encyclopedia: Galactosemia
An infant with galactosemia is unable to use (metabolize) the simple sugar ... An infant with galactosemia may develop jaundice, vomiting, lethargy, ...
http://www.nlm.nih.gov/medlineplus/ency/imagepages/17187.htm
www.nlm.nih.gov
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Galactosemia - OMIM - Genetic disorder catalog - Genetics Home Reference
... information in the Genetics Home Reference condition summary on galactosemia. OMIM: Classic galactosemia. OMIM: Galactokinase deficiency (galactosemia type II) ...
http://ghr.nlm.nih.gov/condition=galactosemia/show/OMIM
ghr.nlm.nih.gov
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Transient galactosemia detected by neonatal mass screening.
... (3):281-4. Transient galactosemia detected by neonatal mass ... CONCLUSION: We found that the prognosis of transient galactosemia was almost always favorable. ...
http://www.ncbi.nlm.nih.gov/pubmed/10365579
www.ncbi.nlm.nih.gov
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Galactosemia - Patient support - For patients and families - Genetics ...
Genetic Conditions > galactosemia > Patient support - For patients and families ... the information in the Genetics Home Reference condition summary on galactosemia. ...
http://ghr.nlm.nih.gov/condition=galactosemia/show/Patient+support
ghr.nlm.nih.gov
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summary
Living with classical galactosemia: health-related quality of life ...
OBJECTIVE: Classical galactosemia (McKusick 230400) is an autosomal recessive ... levels, and on the specific galactosemia-related concerns of these families. ...
http://www.ncbi.nlm.nih.gov/pubmed/15121984
www.ncbi.nlm.nih.gov
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summary
Galactosemia - References - Genetics Home Reference
Gene Review: Galactosemia. Lai K, ... pathogenesis of galactosemia. Annu Rev Nutr. ... of the long-term neurological effects of galactosemia. Pediatr Neurol. ...
http://ghr.nlm.nih.gov/condition=galactosemia/show/References
ghr.nlm.nih.gov
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summary
Vitreous hemorrhage as an ophthalmic complication of galactosemia.
A major complication of galactosemia is cataracts. ... associated with neonatal disease in galactosemia leads to vitreous hemorrhage. ...
http://www.ncbi.nlm.nih.gov/pubmed/8969739
www.ncbi.nlm.nih.gov
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Galactosemia - MedlinePlus - Health information - Genetics Home Reference
... Home Reference condition summary on galactosemia. ... Encyclopedia: Galactosemia. Health Topic: Genetic Brain Disorders. Health Topic: Liver Diseases ...
http://ghr.nlm.nih.gov/condition=galactosemia/show/MedlinePlus
ghr.nlm.nih.gov
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Carbohydrate Metabolism: Hereditary Metabolic Disorders: Merck Manual ...
A newborn with galactosemia seems normal at first but within a few days or weeks ... If galactosemia is recognized at birth and adequately treated, the liver and ...
http://www.merck.com/mmhe/sec23/ch282/ch282b.html
www.merck.com
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Identification of novel mutations in classical galactosemia.
Classical galactosemia is an autosomal recessive disorder of galactose ... the mutational spectrum of classical galactosemia in a cohort of 123 Dutch ...
http://www.ncbi.nlm.nih.gov/pubmed/15841485?ordinalpos=2&ito...
www.ncbi.nlm.nih.gov
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summary
A molecular approach to galactosemia.
1: Eur J Pediatr. 1995;154(7 Suppl 2):S21-7. A molecular approach to galactosemia. ... Classical galactosemia (G/G) is caused by the lack of galactose-1-phosphate ...
http://www.ncbi.nlm.nih.gov/pubmed/7671959
www.ncbi.nlm.nih.gov
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Galactosemia - Educational resources - Information pages - Genetics ...
... Home Reference condition summary on galactosemia. ... newborn screening for galactosemia. Ask the Geneticist: The Duarte variant of galactosemia ...
http://ghr.nlm.nih.gov/condition=galactosemia/show/Educational+resources
ghr.nlm.nih.gov
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Carbohydrate Metabolism Disorders: Inherited Disorders of Metabolism ...
Galactosemia. Galactose-1-phosphate uridyl transferase deficiency. Galactokinase deficiency ... from classic galactosemia, although sometimes with ...
http://www.merck.com/mmpe/sec19/ch296/ch296d.html
www.merck.com
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summary
Molecular heterogeneity of classical and Duarte galactosemia: mutation ...
Classical galactosemia is caused by one common missense mutation (Q188R) and by ... DGGE detected 59 of the 60 classical galactosemia alleles. ...
http://www.ncbi.nlm.nih.gov/pubmed/9222760
www.ncbi.nlm.nih.gov
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summary
Breastfeeding: Lifestyle and Breast Milk - Womens Health and Medical ...
Women's health information covers breast, cancer, heart, pregnancy, sexual ... Babies with severe galactosemia may have liver problems, malnutrition, or mental ...
http://www.medicinenet.com/script/main/art.asp?articlekey=26010&page=2
www.medicinenet.com
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MedlinePlus Enciclopedia Médica: Galactosemia
Galactosemia. Nombres alternativos Volver al comienzo ... La galactosemia es una enfermedad enzimática hereditaria, transmitida como un ...
http://www.nlm.nih.gov/medlineplus/spanish/ency/article/000366.htm
www.nlm.nih.gov
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GALACTOSEMIA-1 - Pedbase.org
... The Pediatric Database - Detailed information of GALACTOSEMIA-1. GALACTOSEMIA-I ... 1994 -2007 Pedbase.org. Powered by Database of Pediatrics- GALACTOSEMIA-I ...
http://pedbase.org/g/galactosemia-1/
pedbase.org
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Encyclopedia G-Gz on Yahoo! Health
Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, ... Galactosemia. Galactosemia Test. Gallbladder ...
http://health.yahoo.com/ency/g/
health.yahoo.com
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The molecular biology of galactosemia.
Classic galactosemia is an autosomal recessive disorder caused by the deficiency ... The Duarte galactosemia variant is caused by N314D. ...
http://www.ncbi.nlm.nih.gov/pubmed/11261429
www.ncbi.nlm.nih.gov
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Adam
Galactosemia. Hyperparathyroidism. Methylmalonic acidemia. Multiple myeloma. Osteomalacia ... Galactosemia. Hartnup disease. Homocystinuria. Hyperammonemia ...
http://stvhs.adam.com/content.aspx?productId=101&pid=1&gid=003366
stvhs.adam.com
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WebMD Health A-Z - Find reliable health and medical information on ...
Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable ... Galactosemia. Galactoside Beta ...
http://www.webmd.com/a-to-z-guides/health-topics/ga-ge.htm
www.webmd.com
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Classical galactosemia and mutations at the galactose-1-phosphate ...
Classical galactosemia is caused by a deficiency in activity of the enzyme ... contributes to the phenotypic heterogeneity that is observed in galactosemia. ...
http://www.ncbi.nlm.nih.gov/pubmed/10408771
www.ncbi.nlm.nih.gov
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Brain and nervous system - Genetics Home Reference
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease see galactosemia ... GALT Deficiency see galactosemia ... Deficiency see galactosemia ...
http://www.ghr.nlm.nih.gov/conditionCategory=brainandnervoussystem
www.ghr.nlm.nih.gov
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American Liver Foundation - Related Terms - Genetic Disorders
The Web Site of the American Liver Foundation. ... Galactosemia. Galactosemia is an inherited disorder that prevents a person from processing the ...
http://www.liverfoundation.org/tags/Genetic+Disorders
www.liverfoundation.org
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Molecular characterization of two galactosemia mutations: correlation ...
Galactosemia is an autosomal recessive disorder of human galactose metabolism ... It accounts for one-fourth of the galactosemia alleles studied. ...
http://www.ncbi.nlm.nih.gov/pubmed/1897530
www.ncbi.nlm.nih.gov
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MedlinePlus Medical Encyclopedia: Topics beginning with G
Galactokinase deficiency see Galactosemia. Galactorrhea see Nipple discharge - abnormal ... Galactose-1-phosphate uridyl transferase deficiency see Galactosemia ...
http://www.nlm.nih.gov/medlineplus/ency/encyclopedia_G.htm
www.nlm.nih.gov
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Congenital cataract
Galactosemia. Rubella. Down syndrome. Trisomy 13. Ectodermal dysplasia ... Galactosemia. Hallerman-Streiff syndrome. Lowe syndrome. Marinesco-Sjogren syndrome ...
http://adam.about.com/encyclopedia/infectiousdiseases/Congen...
adam.about.com
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Approach to the Patient With a Suspected Inherited Disorder of ...
... deficiency or classic galactosemia, and ophthalmoplegia and retinal ... errors that cause renal tubular damage (eg, galactosemia, tyrosinemia type I) ...
http://www.merck.com/mmpe/print/sec19/ch296/ch296b.html
www.merck.com
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Breastfeeding Overview
WebMD reviews the latest information on breastfeeding. Find out about the benefits for mothers and babies, the basics on ... called galactosemia and cannot ...
http://www.webmd.com/parenting/breastfeeding-benefits?page=3
www.webmd.com
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GALT - galactose-1-phosphate uridylyltransferase - Genetics Home Reference
galactosemia - caused by mutations in the GALT gene ... Essentials of Glycobiology (1999): Galactosemia. Gene Reviews - Clinical summary ...
http://ghr.nlm.nih.gov/gene=galt
ghr.nlm.nih.gov
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Genetic basis of galactosemia.
Classic galactosemia is an inborn error of galactose metabolism and results from ... Thus, galactosemia is heterogeneous at the molecular level, which is noteworthy ...
http://www.ncbi.nlm.nih.gov/pubmed/1301925
www.ncbi.nlm.nih.gov
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Health Information - MMCI
MMCI - Methodist Medical Center, methodist hospital, Illinois hospital, peoria hospital ... Galactosemia. Galactosemia screen. Galactosylceramidase deficiency ...
http://mmci2.adam.com/content.aspx?productId=101&alpha=G
mmci2.adam.com
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Talk:Galactosemia - Wikipedia, the free encyclopedia
Talk:Galactosemia. From Wikipedia, the free encyclopedia. Jump to: navigation, search - possible to ... Preceding unsigned comment added by 89.243.0.140 (talk) ...
http://en.wikipedia.org/wiki/Talk:Galactosemia
en.wikipedia.org
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Mutations at the galactose-1-p-uridyltransferase gene in infants with a ...
Newborn screening for galactosemia yields a high number of false-positive results. ... Four novel galactosemia candidate mutations (Q9H, A46fsdelCAGCT, M129T, ...
http://www.ncbi.nlm.nih.gov/pubmed/11919338?ordinalpos=4&ito...
www.ncbi.nlm.nih.gov
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Congenital galactosemia, a single enzymatic block in galactose metabolism.
1: Science. 1956 Apr 13;123(3198):635-6. ... ISSELBACHER KJ, ANDERSON EP, KURAHASHI K, KALCKAR HM. Mesh Terms: Galactose/blood ...
http://www.ncbi.nlm.nih.gov/pubmed/13311516
www.ncbi.nlm.nih.gov
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GALE - UDP-galactose-4-epimerase - Genetics Home Reference
galactosemia - caused by mutations in the GALE gene ... lead to a severe form of galactosemia type III described as the generalized form. ...
http://ghr.nlm.nih.gov/gene=gale
ghr.nlm.nih.gov
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American Liver Foundation. Your Liver. Your Life.
The Web Site of the American Liver Foundation. ... Her best friend Lauren Hughes shares the inspiring story of Mallory's brave ...
http://www.liverfoundation.org/?False
www.liverfoundation.org
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Galactose-1-phosphate is a regulator of inositol monophosphatase: a ...
Classic galactosemia is due to the deficiency of galactose-1-phosphate uridyl ... Patients suffering from classic galactosemia display acute symptoms such as poor ...
http://www.ncbi.nlm.nih.gov/pubmed/12450779
www.ncbi.nlm.nih.gov
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Eyes and vision - Genetics Home Reference
Galactokinase Deficiency Disease see galactosemia. Galactose-1-Phosphate Uridyl ... UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia ...
http://ghr.nlm.nih.gov/conditionCategory=eyesandvision
ghr.nlm.nih.gov
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