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deficiency of one of the six hepatic enzymes or two transporters involved in detoxification of ammonia(passive) are caused by70.CopyAbstractThe urea cycle disorders
11/19/2015 - " A decrease in nitrogen flux through ASS1 in the livercausesthe urea cycle disorder citrullinaemia
dysfunction of ornithine transcarbamylase , which frequently leads to hyperammonemia(passive) caused bya urea cycle disorder
autosomal recessive mutations in argininosuccinate synthetase 1 ( ASS1(passive) caused bya urea cycle disorder
06/01/2006 - " A deficiency in any of the five classical enzymes of the pathwaycausesa urea cycle disorder
close - range visual acu A deficiency in any of the five classical enzymes of the pathwaycausesa urea cycle disorder
a mutation that results in a deficiency of one of the enzymes that play a role in the urea cycle(passive) is caused byUrea cycle disorder
deficiency of a key arginine metabolizing enzyme that leads to severe and progressive hyperargininemia - related neurological abnormalities , hyperammonemia and early mortality(passive) caused bya debilitating urea cycle disorder
a mutation in the arginase I gene that leads to the inability to degrade arginine(passive) caused bya urea cycle disorder
a mutation in the arginase 1 gene that results in the inability to degrade arginine(passive) caused bya urea cycle disorder
a mutation in the arginase 1 gene that leads to the inability to degrade arginine(passive) caused bya urea cycle disorder
the loss of enzymes involved in the process of transferring nitrogen from ammonia to urea(passive) are caused byUrea - cycle disorders ( UCDs
specific defects in any of the eight genes encoding enzymes or membrane transporters involved in ureagenesis(passive) are caused byUrea cycle disorders
defects in the metabolic cycle which converts ammonia to urea(passive) are caused byUrea cycle disorders ( UCDs
Deficiencies of the various enzymes and transporters involved in the urea cyclecan causeurea cycle disorders
genetic defects that render the body unable to remove ammonia from the blood(passive) are caused byUrea cycle disorders ( UCDs
a shortage of one of the six enzymes that are responsible for the elimination of ammonia from the blood stream(passive) is caused byUrea cycle disorder ( UCD
a specific subtype of IEM with a collective incidence of 1 in 44 000 births,1,2(passive) are causedUrea cycle disorders ( UCDs
loss of function(passive) are caused byUrea cycle disorders ( UCDs
Defect in the enzymescausesurea cycle disorders
a lack of certain liver enzymes(passive) caused byurea cycle disorders
Symptoms of partial UCD includecausesUrea Cycle Disorder
non - working transport molecules(passive) caused byurea cycle disorders
an enzyme deficiency that leads to a buildup of toxic ammonia in the blood(passive) is caused byurea cycle disorder ( UCD
a faulty enzyme within the urea cycle(passive) caused byUrea cycle disorders ,
the lack of one or more of the enzymes of the urea cycle pathway(passive) is caused byUrea Cycle Disorder
deficiency of argininosuccinate synthetase(passive) caused bya urea cycle disorder
enzyme defects in the Urea cycle ( WP4571(passive) are caused byUrea cycle disorders
a mutation that leads to a deficiency in one of the six enzymes in the urea cycle(passive) is caused byA urea cycle disorder
an inability to detoxify ammonia into urea(passive) caused bythe urea cycle disorders
of a group of diseases having specific liver enzyme deficiencies(passive) are composedUrea cycle disorders
high - protein diets(passive) can be triggered byUndiagnosed urea cycle disorders
Those who eat low - protein diets or possess eating disorders , liver disease , diabetes , or genetic conditionscauseUrea Cycle Disorders ( UCDs
mutations in the genes NAGS , CPS1 , OTC , ASS1 , ASL and ARG1(passive) may be caused byUrea cycle disorders
Inherited defects in any of the following proteinscan causeurea cycle disorders
an enzyme deficiency leading to a toxic buildup of ammonia in the blood(passive) caused bya urea cycle disorder
germline mutations that lead to decreased flux through ASS1(passive) caused bya urea cycle disorder
UCD ) Ravicti / glycerol phenylbutyrate Ucyclyd Pharma / Hyperion Therapeutics Nitrogen - binding agent Nitrogen accumulates in the form of ammoniacausingurea cycle disorder
Porphyriasresultfrom a urea cycle disorder
a mutation that results in a deficiency of one of the six enzymes(passive) is caused byA urea cycle disorder
ammonia to accumulate in the bloodcauseammonia to accumulate in the blood
a deficiency of one enzyme in the urea cyclecausesa deficiency of one enzyme in the urea cycle
to hyperammonemia and neurologic symptoms , which are less severe than in other forms of urea cycle abnormalitiesleadsto hyperammonemia and neurologic symptoms , which are less severe than in other forms of urea cycle abnormalities
form a defect in the enzyme ASA lyase that converts ammonia to urearesultingform a defect in the enzyme ASA lyase that converts ammonia to urea
severe consequences of late diagnosis 12how to preventsevere consequences of late diagnosis 12
in dangerously high levels of ammonia in the bloodcan resultin dangerously high levels of ammonia in the blood
to severe neonatal hyperammonaemialeadingto severe neonatal hyperammonaemia
in cumulative and irreversible brain damage due to the liver 's inability to process ammonia from the bloodcan resultin cumulative and irreversible brain damage due to the liver 's inability to process ammonia from the blood
long - term management of high levels of ammonia in the blood ( hyperammonemia(passive) caused bylong - term management of high levels of ammonia in the blood ( hyperammonemia
the long - term management of elevated levels of ammonia(passive) caused bythe long - term management of elevated levels of ammonia
the therapy of hyperammonemia(passive) caused bythe therapy of hyperammonemia
acute hyperammonemia(passive) caused byacute hyperammonemia
to mesial temporal sclerosis which leads to increased susceptibility of patients to seizures regardless of their metabolic statecan leadto mesial temporal sclerosis which leads to increased susceptibility of patients to seizures regardless of their metabolic state
elevated ammonia levels in the blood which can result in brain damage , coma , and deathcauseelevated ammonia levels in the blood which can result in brain damage , coma , and death
elevated ammonia levels in the blood which can result in brain damage , coma , and tragicallycauseelevated ammonia levels in the blood which can result in brain damage , coma , and tragically
the body from metabolizing proteinpreventsthe body from metabolizing protein
the body from breaking down proteinpreventsthe body from breaking down protein
in excess ammonia in the bodyresultingin excess ammonia in the body
a build - up of ammonia in her bodycauseda build - up of ammonia in her body
to the accumulation of toxic ammonia in the blood , which leads to hyperammonemiamay leadto the accumulation of toxic ammonia in the blood , which leads to hyperammonemia
to a buildup of ammonia in the bloodleadto a buildup of ammonia in the blood
the body from processing all the protein she was consumingpreventedthe body from processing all the protein she was consuming
too much ammonia to build up in your bodymay causetoo much ammonia to build up in your body
to a build - up of ammonia in a person ’s bloodstream that ends up leading to brain damage , coma , and deathcan leadto a build - up of ammonia in a person ’s bloodstream that ends up leading to brain damage , coma , and death
from an enzyme deficiency of ornithine transcarbamylaseresultingfrom an enzyme deficiency of ornithine transcarbamylase
to the impairment to detoxify ammonia and Crigler - Najjarleadingto the impairment to detoxify ammonia and Crigler - Najjar
to excess amount of ammonia in the body , which can lead to many health problemsleadsto excess amount of ammonia in the body , which can lead to many health problems
her body to stop breaking down protein properlycausedher body to stop breaking down protein properly
from an inability of the body to convert arginine into urearesultingfrom an inability of the body to convert arginine into urea
her body from proper breakdown of protein in bodypreventedher body from proper breakdown of protein in body
high blood levels of ammonia(passive) caused byhigh blood levels of ammonia
in hyperammonemia without acidosis and only occasionally hypoglycemiaresultin hyperammonemia without acidosis and only occasionally hypoglycemia
from a protein or enzyme deficiency in the urea cycleresultfrom a protein or enzyme deficiency in the urea cycle
from an enzyme deficiency of carbamyl phosphate synthetaseresultingfrom an enzyme deficiency of carbamyl phosphate synthetase
a deficiency of 1 enzyme in the urea cyclecausesa deficiency of 1 enzyme in the urea cycle
one enzyme to be deficient in the body , which makes it unable to remove nitrogen waste from the bloodcausesone enzyme to be deficient in the body , which makes it unable to remove nitrogen waste from the blood
the body from removing ammonia ... as a byproduct from foods containing nitrogen ) from the blood and metabolizing it to ureapreventthe body from removing ammonia ... as a byproduct from foods containing nitrogen ) from the blood and metabolizing it to urea
the body from removing ammonia ... as a by - product from foods containing nitrogen ) from the blood and metabolizing it to ureapreventthe body from removing ammonia ... as a by - product from foods containing nitrogen ) from the blood and metabolizing it to urea
the body from removing ammonia ... as a by - product from foods containing nitrogen ) from the blood and metabolizing the blood to ureapreventthe body from removing ammonia ... as a by - product from foods containing nitrogen ) from the blood and metabolizing the blood to urea
to excessive accumulation of ammonia and other toxins in the bloodleadsto excessive accumulation of ammonia and other toxins in the blood