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Qaagi - Book of Why

Causes

Effects

defects in the metabolic cycle which converts ammonia to urea(passive) are caused byUrea cycle disorders ( UCDs

Deficiency of any of the enzymes in the pathwaycausesa specific urea cycle disorder ( UCD

by a deficiency in an enzyme(passive) caused bya rare metabolic urea - cycle disorder

by a deficiency(passive) caused bya rare metabolic urea - cycle disorder

elevated ammonia levels in the blood ( hyperammonemia(passive) are caused bySymptoms of urea cycle disorders

by a deficiency in an enzyme called ornithine transcarbamylase(passive) caused bya rare metabolic urea - cycle disorder

by the deficiency of arginase(passive) caused byan autosomal recessive urea cycle disorder

by congenital mutations in the OTC gene(passive) caused byurea cycle disease

> Deficiency of an enzyme in the pathwaycausesa urea cycle disorder ( UCD

by an enzyme deficiency that leads to a buildup of toxic ammonia in the blood(passive) is caused byurea cycle disorder ( UCD

by an enzyme deficiency that leads to a buildup of toxic ammonia in the blood(passive) is causedurea cycle disorder ( UCD

an enzyme deficiency that leads to a buildup of toxic ammonia in the blood(passive) is caused byurea cycle disorder ( UCD

by deficiency of a key arginine metabolizing enzyme(passive) caused bya debilitating urea cycle disorder

a mutation that leads to a deficiency in one of the six enzymes in the urea cycle , that then leads to a buildup of nitrogen in the form of toxic ammonia in the blood(passive) is caused byA urea cycle disorder

a mutation that leads to a deficiency in one of the six enzymes in the urea cycle(passive) is caused byA urea cycle disorder

by a mutation that leads to a deficiency in one of the six enzymes in the urea cycle(passive) is causedA urea cycle disorder

by a mutation that leads to a deficiency in one of the six enzymes in the urea cycle(passive) is caused byA urea cycle disorder

by lack of a certain liver enzyme(passive) caused bya urea cycle disorder

lack of a certain liver enzyme(passive) caused bya urea cycle disorder

by deficiency of the mitochondrial 1 ornithine transporter ( ORNT1 ) transferring ornithine from the cytosol to hepatic mitochondria for the ornithine transcarbamylase reaction(passive) caused byan inherited urea cycle disorder

deficiency of the mitochondrial 1 ornithine transporter ( ORNT1 ) transferring ornithine from the cytosol to hepatic mitochondria for the ornithine transcarbamylase reaction(passive) caused byan inherited urea cycle disorder

Deficiency of one of these enzymeswill causeurea cycle disorder

by 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

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

by a mutation that results in a deficiency of one of the six enzymes(passive) is caused byA urea cycle disorder

by a mutation that results in a deficiency of one of the six enzymes(passive) is causedA urea cycle disorder

a lack of a specific enzyme in the urea cycle(passive) are caused byMost urea cycle disorders

a missing or defective enzyme(passive) caused bya handful of urea cycle disorders

by autosomal recessive mutations(passive) caused bya urea cycle disorder

a mutation in the arginase I gene that leads to the inability to degrade arginine(passive) caused bya urea cycle disorder

the genetic defectleadsto urea cycle disorder

of a group of diseases having specific liver enzyme deficiencies(passive) are composedUrea cycle disorders

a faulty enzyme within the urea cycle(passive) caused byUrea cycle disorders ,

Brain MR imaging in neonatal hyperammonemic encephalopathyresultingfrom proximal urea cycle disorders

deficiencies of certain proteins ( enzymes(passive) are caused byUrea cycle disorders

Deficiencies of the various enzymes and transporters involved in the urea cyclecan causeurea cycle disorders

inborn deficiencies of certain enzymes involved in the metabolism of amino - acids(passive) are caused byUrea cycle disorders

Defect in the enzymescausesurea cycle disorders

THERAPYcausesBILIARY TRACT DISORDER

Deficiencies in any of these enzymes , also known as inborn errors of urea synthesiscan leadto urea cycle disorders

a deficiency of one enzyme within the urea cyclecausesa deficiency of one enzyme within the urea cycle

a deficiency of one enzyme inside urea cyclecausesa deficiency of one enzyme inside urea cycle

a deficiency of one enzyme in the urea cyclecausesa deficiency of one enzyme in the urea cycle

elevated ammonia levels(passive) caused byelevated ammonia levels

severe neurological sequelae , seizures and psychomotor retardationcausessevere neurological sequelae , seizures and psychomotor retardation

hyperammonemia and neurologic sequelaecauseshyperammonemia and neurologic sequelae

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

a deficiency of one enzyme within the urea cyclecausesa deficiency of one enzyme within the urea cycle

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

a deficiency of one enzyme in the urea cyclecausesa deficiency of one enzyme in the urea cycle

to excessive accumulation of ammonia and other toxins in the bloodleadsto excessive accumulation of ammonia and other toxins in the blood

a build - up of ammonia in her bodycauseda build - up of ammonia in her body

ammonia to accumulate in the bloodcauseammonia to accumulate in 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

a buildup of fluid in the brain and fatal levels of ammonia in the bloodstreamcausesa buildup of fluid in the brain and fatal levels of ammonia in the bloodstream

accumulation of ammoniacausingaccumulation of ammonia

ammonia to accumulate in the bloodcausesammonia to accumulate in the blood

a build - up of ammoniacauseda build - up of ammonia

in deficiencies in the urea cycle and its ability to detoxify ammoniaresultin deficiencies in the urea cycle and its ability to detoxify ammonia

your blood(passive) caused byyour blood

high blood levels of ammonia(passive) caused byhigh blood levels of ammonia

the accumulation of ammonia , which can lead to encephalopathycausesthe accumulation of ammonia , which can lead to encephalopathy

the rise in ammonia(passive) caused bythe rise in ammonia

in accumulation of excessive ammonia and citrullineresultsin accumulation of excessive ammonia and citrulline

to a build - up ofcan leadto a build - up of

Hyperammonemia(passive) is caused byHyperammonemia

Hyperammonemia(passive) is caused byHyperammonemia

to a building up of toxic ammonia 4leadingto a building up of toxic ammonia 4

to toxic accumulation of ammonia and other metabolitesleadsto toxic accumulation of ammonia and other metabolites

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

in irreversible brain damage , coma or even deathcan resultin irreversible brain damage , coma or even death

a build - up of ammonia in her blood stream and fluid in her brain which ultimately led to lost brain functioncauseda build - up of ammonia in her blood stream and fluid in her brain which ultimately led to lost brain function

in two distinct phenotypesresultingin two distinct phenotypes

from an enzyme deficiency of ornithine transcarbamylaseresultingfrom an enzyme deficiency of ornithine transcarbamylase

a build - up of ammonia in the blood which can result in life - threatening side effectscan causea build - up of ammonia in the blood which can result in life - threatening side effects

from an enzyme deficiency of carbamyl phosphate synthetaseresultingfrom an enzyme deficiency of carbamyl phosphate synthetase

in elevated levels of the amino acid arginineresultsin elevated levels of the amino acid arginine

high levels of ammonia in the bloodcausehigh levels of ammonia in the blood

in defective cleavage of ASA ... leading to an accumulation of ASA in cells and an excessive excretion of ASA in urine ( arginosuccinic aciduriaresultsin defective cleavage of ASA ... leading to an accumulation of ASA in cells and an excessive excretion of ASA in urine ( arginosuccinic aciduria

in severe hyperammonemiamay resultin severe hyperammonemia

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