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mutations in genes and a deficiency of enzymes(passive) is caused byGalactosemia
generalized uridine diphosphate galactose-4-epimerase deficiency [ letter(passive) caused byGalactosemia
9 Mutations in the GALT , GALK1 , and GALE genescausegalactosemia
an inability to metabolize galactose(passive) is caused byGalactosemia
a lack of one of the enzymes needed to metabolize the sugar in milk(passive) is caused byGalactosemia
an abnormality in the genes(passive) is caused byGalactosemia
mutations in certain genes(passive) is caused byGalactosemia
a point mutation that activates cryptic donor splice site in the galactose-1-phosphate uridyltransferase gene - GeoScience.net Galactosemia caused by a point mutation that activates cryptic donor splice site in the galactose-1-phosphate uridyltransferase gene Wadelius , C. ; Lagerkvist , A. ; Molin , A.K. ; Larsson , A. ; von Döbeln , U. ; Pettersson , U. , 1993(passive) caused byGalactosemia
The prevalence of GALM mutationscausegalactosemia
Microcephaly ( abnormally small skull ) Mutations in the GALT , GALK1 , and GALE genescausegalactosemia
PreventionThere ... no known wayto preventgalactosemia
Prevention ^There ... no known wayto preventgalactosemia
DNA testing ... genescausesgalactosemia
mutations in other genes ( GALE , GALK1 , and GALTmay ... causegalactosemia
Mutations in the GALE , GALK1 , and GALT genescausegalactosemia
a lack of theGALT enzyme(passive) is caused byGalactosemia
mutations in the GALT genecausegalactosemia
a gene mutationcausinggalactosemia
an abnormal genecan causegalactosemia
the mutated genecausesgalactosemia
The faulty genecreatesgalactosemia
defect in enzyme(passive) is caused byGalactosemia
the absence of the enzyme , galactokinase , which is responsible for the first step of the conversion of galactose to glucose(passive) caused bygalactosemia
mutations ( changes(passive) is caused byGalactosemia
This assay ... the mutationscausegalactosemia
46 Tradebinaryoptions org metabolic defectcausesgalactosemia
a mutation in the gene that codes for the GALT enzyme(passive) is caused byGalactosemia
mutations in genes that help make enzymes the body needs to convert galactose into glucose(passive) is caused byGalactosemia
a defective component of the second major step in the metabolism of the sugar galactose(passive) usually is caused byGalactosemia
the lack of a liver enzyme required to digest galactose(passive) is caused byGalactosemia
mutations in the gene that makes the enzyme galactose-1-phosphate uridylyltransferase(passive) is caused byGalactosemia
a mutation on a particular gene(passive) is caused byGalactosemia
a gene change , or mutation(passive) is caused byGalactosemia
a nonworking copy of the genecan causegalactosemia
errors in the genes for the three main enzymes responsible for adequate galactose breakdown(passive) is caused byGalactosemia
a galatose-1-phosphate uridyl transferase ( GALT ) , a galactokinase , or an epimerase deficiency(passive) can be caused byGalactosemia
lactose heritable mutationscan causegalactosemia
over one hundred mutations(passive) can be caused byGalactosemia
an inborn lack of an enzyme that is vital to this conversion process of galactose to glucose(passive) is caused byGalactosemia
mutation in the gene that controls the body(passive) is caused byGalactosemia
severe brain damage and deathcausessevere brain damage and death
from an inability to process galactose , a simple sugar.[5 ] Transferase reactions Transferases are involved in a myriad of reactions in the cellresultsfrom an inability to process galactose , a simple sugar.[5 ] Transferase reactions Transferases are involved in a myriad of reactions in the cell
serious problems , such as an enlarged liver , kidney failure , and brain damagecan causeserious problems , such as an enlarged liver , kidney failure , and brain damage
seizures , liver damage , blood infections , and deathcan causeseizures , liver damage , blood infections , and death
congenital cataract - Answers on HealthTap Doctor insights onDoes ... causecongenital cataract - Answers on HealthTap Doctor insights on
from congenital inabilityresultsfrom congenital inability
cataract in children ' or similar listed as a symptom in our databasecausingcataract in children ' or similar listed as a symptom in our database
cataract in infants Videos about Galactosemia causing cataract incausingcataract in infants Videos about Galactosemia causing cataract in
to cataracts , mental retardation , liver and renal damage , and even deathleadsto cataracts , mental retardation , liver and renal damage , and even death
cataract in infants ' or similar listed as a symptom in our databasecausingcataract in infants ' or similar listed as a symptom in our database
to severe mental and physical deterioration and deathleadingto severe mental and physical deterioration and death
enlarged liver and spleen , and mental retardationcan resultenlarged liver and spleen , and mental retardation
severe damage to the liver , eyes , kidney , and braincan causesevere damage to the liver , eyes , kidney , and brain
in toxic accumulation of galactose and galactose-1-phosphate in tissuesresultsin toxic accumulation of galactose and galactose-1-phosphate in tissues
in the inability to convert galactose to glucoseresultsin the inability to convert galactose to glucose
brain , kidney and organ damage when the diet is n’t followed Hollycausesbrain , kidney and organ damage when the diet is n’t followed Holly
to accumulation of galactose and galactose 1-phosphate ( gal-1-P ) in blood and tissuesleadsto accumulation of galactose and galactose 1-phosphate ( gal-1-P ) in blood and tissues
liver dysfunction , susceptibility to infections , failure to thrive , ovarian problems , and cataractscausesliver dysfunction , susceptibility to infections , failure to thrive , ovarian problems , and cataracts
to growth deficiency , severe retardation , destruction of major internal organs , blindness and perhaps deathcould leadto growth deficiency , severe retardation , destruction of major internal organs , blindness and perhaps death
long - term complications such as brain damage , kidney damage , learning disabilities , and reduced bone densitycan causelong - term complications such as brain damage , kidney damage , learning disabilities , and reduced bone density
several severe symptoms : kidney failure , an enlarged liver , cataracts , poor growth , and physical and mental disabilitiescan causeseveral severe symptoms : kidney failure , an enlarged liver , cataracts , poor growth , and physical and mental disabilities
liver and kidney failure or brain damage if galactose ... acting as a poison ... accumulates in the body ... according to a description by the National Institutes of Healthcan causeliver and kidney failure or brain damage if galactose ... acting as a poison ... accumulates in the body ... according to a description by the National Institutes of Health
liver / kidney damage , cataracts / blindness , mental retardation , severe learning disabilities , speech issues , tremors and other central nervous system problemscan causeliver / kidney damage , cataracts / blindness , mental retardation , severe learning disabilities , speech issues , tremors and other central nervous system problems
liver / kidney/ brain damage , cataracts / blindness , infertility , mental retardation , severe learning disabilities , speech issues , tremors , tics , and other problemscan causeliver / kidney/ brain damage , cataracts / blindness , infertility , mental retardation , severe learning disabilities , speech issues , tremors , tics , and other problems
People with this condition must avoid all milk , milk - containing products including dry milkand other foods that contain galactosemia causes for lifecausesPeople with this condition must avoid all milk , milk - containing products including dry milkand other foods that contain galactosemia causes for life
from a failure to metabolize galactoseresultsfrom a failure to metabolize galactose
a deficiency in a liver enzyme responsible for metabolizing galactose in the bloodcausesa deficiency in a liver enzyme responsible for metabolizing galactose in the blood
from an abnormality or lack of liver enzymes needed to transform galactose to glucoseresultsfrom an abnormality or lack of liver enzymes needed to transform galactose to glucose
from defects in 1 of 3 enzymes involved in the metabolism of galactose : galactose 1-phosphate uridyltransferase ( Gal-1-PUT ) , galactokinase , or UDP galactosecan resultfrom defects in 1 of 3 enzymes involved in the metabolism of galactose : galactose 1-phosphate uridyltransferase ( Gal-1-PUT ) , galactokinase , or UDP galactose
from an enzymatic defect of galactose metabolismresultsfrom an enzymatic defect of galactose metabolism
retardation in infants if not treated by complete removal fromcan causeretardation in infants if not treated by complete removal from
the acute symptoms(passive) caused bythe acute symptoms
from three known forms of deficiency , galactokinase deficiency , galactose-1-phosphate uridyltransferase deficiency and UDP - galactose-4-epimerase deficiencyresultsfrom three known forms of deficiency , galactokinase deficiency , galactose-1-phosphate uridyltransferase deficiency and UDP - galactose-4-epimerase deficiency
from missing GALTresultingfrom missing GALT
when one born without the ability to make galactose is exposed to that sugar ( common in human and bovine milk).Without the enzyme to break it into its parts , it can build up and interfere with a babies metabolismresultswhen one born without the ability to make galactose is exposed to that sugar ( common in human and bovine milk).Without the enzyme to break it into its parts , it can build up and interfere with a babies metabolism
due to deficiency of galactose-1-phosphate uridylyltransferase ( GALT ) , which is necessary for the metabolism of galactose , resulting in a build - up of sugars in the bodyCauseddue to deficiency of galactose-1-phosphate uridylyltransferase ( GALT ) , which is necessary for the metabolism of galactose , resulting in a build - up of sugars in the body
to accumulation of galacatose and galacatose-1 phosphateleadsto accumulation of galacatose and galacatose-1 phosphate
hepatomegaly , jaundice , neonatal sepsis , cataracts , and elevated galactose metabolitescan causehepatomegaly , jaundice , neonatal sepsis , cataracts , and elevated galactose metabolites
diarrhea and vomitingcausingdiarrhea and vomiting
when a specific enzyme ( a type of protein ) in the body , called galactose-1-phosphate uridyltransferase ( GALT ) , can not break down galactose ( a sugar found in milkresultswhen a specific enzyme ( a type of protein ) in the body , called galactose-1-phosphate uridyltransferase ( GALT ) , can not break down galactose ( a sugar found in milk