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a rare gene defect(passive) is caused byMaple syrup urine disease ( MSUD
an inherited deficiency in the branched - chain alpha - ketoacid dehydrogenase complex(passive) is caused byMaple syrup urine disease
deficiency in the activity of an enzyme complex referred to as branched - chained - a - ketoacid acid dehydrogenase ( BCKD ) complex(passive) is caused byMaple Syrup Urine Disease ( MSUD
Cao Z. Two novel mutations in the BCKDHB genecausemaple syrup urine disease
decreased activity of the branched - chain alpha - ketoacid dehydrogenase complex ( BCKAD ) , the second enzymatic step in the degradative pathway of the BCAAs(passive) is caused byMaple syrup urine disease
two novel BCKDHB gene mutations in a Chinese neonate].[25381949(passive) caused byMaple syrup urine disease
2057019811.Four novel mutations identified in Norwegian patientsresultin intermittent maple syrup urine disease
the inability to metabolize leucine , isoleucine , and valine(passive) is caused byDeficiency of valine : Maple syrup urine disease ( MSUD
20570198 2010 Four novel mutations identified in Norwegian patientsresultin intermittent maple syrup urine disease
Eide L. Four novel mutations identified in Norwegian patientsresultin intermittent maple syrup urine disease
mutations in the BCKDHA gene(passive) caused bymaple syrup urine disease
mutation in at least four genes more about maple syrup urine disease(passive) can be caused byMaple syrup urine disease ( msud
the inability to metabolize the branched - chain amino acids leucine , isoleucine , and valine(passive) is caused byMaple syrup urine disease ( MSUD
Select item 205701982.Four novel mutations identified in Norwegian patientsresultin intermittent maple syrup urine disease
a Partial Deletion in the Inner E2 Core Domain of the Branched Chain alpha - Keto Acid Dehydrogenase Complex Due to Aberrant Splicing - A Single Base Deletion at a 5'-Splice Donor Site of an Intron of the E2 Gene(passive) Caused byMaple Syrup Urine Disease
the consequences of specific human genetic mutationsresultin maple syrup urine disease
Deficiency of the dehydrogenase enzyme for these branched - chain amino acidscausesmaple syrup urine
John Menkes(passive) was discovered bymaple syrup urine disease BCKDHA
Two homozygous mutations in the exon 5 of BCKDHB genemay causethe classic form of maple syrup urine disease
Maple syrup urine disease - Genetics Home Reference Mutations in the BCKDHA , BCKDHB , DBT , and DLD genescan causemaple syrup urine disease
a deficiency of the branched - chain alpha - keto acid dehydrogenase complex ( BCKAD ) composed of BCKDHA , BCKDHB , DBT , and DLD(passive) is caused byMaple syrup urine disease ( MSUD
1943689 1991 Molecular defects in the E1 alpha subunit of the branched - chain alpha - ketoacid dehydrogenase complexcausemaple syrup urine disease
Crabb , D. W. / Molecular defects in the E1α subunit of the branched - chain α - ketoacid dehydrogenase complexcausemaple syrup urine disease
the occurrence of three novel mutations in the E1 alpha ( BCKDHA ) locus of the branched - chain alpha - keto acid dehydrogenase ( BCKAD ) complexcausemaple syrup urine disease ( MSUD
a deficiency of the metabolic enzyme branched - chain a - keto acid dehydrogenase ( BCKDH(passive) is caused byMaple syrup urine disease
the enzyme defectcausesmaple syrup urine disease
the catabolic defectleadingto maple syrup urine disease
mutations in the DBT gene(passive) caused bymaple syrup urine disease
Related citations Select item 19436895.Molecular defects in the E1 alpha subunit of the branched - chain alpha - ketoacid dehydrogenase complexcausemaple syrup urine disease
61 56 6 7883996 1995 Molecular defects in the E1 alpha subunit of the branched - chain alpha - ketoacid dehydrogenase complexcausemaple syrup urine disease
a defect in branched - chain ketoacid dehydrogenase , a Vitamin B1 ( Thiamine)-dependent enzyme , which leads to the accumulation of the branched - chain amino acids : isoleucine , leucine , and valine(passive) is caused byMaple Syrup Urine Disease
deficiency of a branch chain(passive) is caused byMaple Syrup Urine Disease
A genetic deficiency in BCKDHcausesmaple syrup urine disease
genetic mutations in the BCKDHA , BCKDHB and DBT genes , which together encode for proteins that make up the BCKAD ( Branched - Chain alpha - KetoAcid Dehydrogenase ) complex(passive) is caused byMaple syrup urine disease
a deficiency of an enzyme needed to break down amino acids which then increase toxic levels in the body(passive) is caused byMaple syrup urine disease ( MSUD
a deficiency of an enzyme needed to break down amino acids , which then increases toxic levels in the body(passive) is caused byMaple syrup urine disease
mutations in the BCKDHA , BCKDHB and DBT genes , which encode for the E1alpha , E1beta and E2 subunits of the branched - chain alpha - keto acid dehydrogenase complex , respectively(passive) is predominantly caused by10/01/2013 - " Maple syrup urine disease ( MSUD
deficiency in the mitochondrial branched - chain α - ketoacid dehydrogenase ( BCKD ) complex(passive) is caused byMaple syrup urine disease
a defect in biopterin metabolism(passive) caused bymaple syrup urine disease
Mutations in the BCKDHA , BCKHB , and DBT genescan causemaple syrup urine disease
to encephalopathy in neonatesleadsto encephalopathy in neonates
urine to smell sickeningly sweet8 Certain foods — most notably asparaguscausesurine to smell sickeningly sweet8 Certain foods — most notably asparagus
metabolic imbalances(passive) caused bymetabolic imbalances
the urine to smell like pancake syrupcausesthe urine to smell like pancake syrup
from genetic defects in BCKDC , which leads to accumulation of toxic levels of BCAAs and BCKAs that result in brain swellingresultsfrom genetic defects in BCKDC , which leads to accumulation of toxic levels of BCAAs and BCKAs that result in brain swelling
severe brain damage and deathcausessevere brain damage and death
the digestion of some proteins ... and is found in one in 120,000 birthspreventsthe digestion of some proteins ... and is found in one in 120,000 births
you to you smell like pancakes ... you have go into a coma , you will avoid foodcausesyou to you smell like pancakes ... you have go into a coma , you will avoid food
in discoloration and a sweet smell in the patient 's urine , which is where the name comes fromresultsin discoloration and a sweet smell in the patient 's urine , which is where the name comes from
bodily fluids to omit a similar smell - affects just one in 250,000 people around the worldcan causebodily fluids to omit a similar smell - affects just one in 250,000 people around the world
drowsiness , vomiting and coma and is so called because of the sweet smell of the child ’s urine or ear wax which can alert doctors to the causecan causedrowsiness , vomiting and coma and is so called because of the sweet smell of the child ’s urine or ear wax which can alert doctors to the cause
an accumulation of branched - chain amino acids ( leucine , isoleucine , and valine ) and related ketoacidscausesan accumulation of branched - chain amino acids ( leucine , isoleucine , and valine ) and related ketoacids
to the accumulation of branched - chain amino acids ( BCAAs ) and their α - keto branched - chain by - productsleadsto the accumulation of branched - chain amino acids ( BCAAs ) and their α - keto branched - chain by - products
A group of research workers(passive) led byA group of research workers
certain substances to accumulate in the bloodcausescertain substances to accumulate in the blood
certain amino acids to accumulate in the bloodcausescertain amino acids to accumulate in the blood
mental retardation , physical disability and deathcausesmental retardation , physical disability and death
to elevated concentrations of leucine , isoleucine , and valine ( branched amino acids ... in the blood and urineleadsto elevated concentrations of leucine , isoleucine , and valine ( branched amino acids ... in the blood and urine
a potentially fatal build up of amino acids in the bloodcausesa potentially fatal build up of amino acids in the blood
in mental and physical disabilitiesresultsin mental and physical disabilities
considerable neurological and physical problemscan causeconsiderable neurological and physical problems
the impairment in the metabolism of valine along with the leucine and isoleucinecausesthe impairment in the metabolism of valine along with the leucine and isoleucine
typicallyleadstypically
neurological damage and deathcan leadneurological damage and death
a abnormally high volume of amino acid in their bloodcan causea abnormally high volume of amino acid in their blood
due to a mutated genecauseddue to a mutated gene
in aspiration of food allergiesmay resultin aspiration of food allergies
the body from breaking down amino acids causing a unique urine aroma similar topreventsthe body from breaking down amino acids causing a unique urine aroma similar to
to coma or mental retardationleadsto coma or mental retardation
malignant hypertension causes unstable angina causescausesmalignant hypertension causes unstable angina causes
irregular amino acid metabolismcausesirregular amino acid metabolism
the body is unable to process certain protein building blockscausesthe body is unable to process certain protein building blocks
him to be unable to digest a couple of amino acids in protein ... eating unrestricted proteincauseshim to be unable to digest a couple of amino acids in protein ... eating unrestricted protein
glaucoma in infantscausesglaucoma in infants
Publications ] Ichiro Matsuda(passive) is causedPublications ] Ichiro Matsuda
discolored and sweet - smelling urinecreatesdiscolored and sweet - smelling urine
oftenleadsoften
the body from breaking down certain proteinspreventsthe body from breaking down certain proteins
from a deficiency of branched chain alpha - ketoacid dehydrogenase ( BCKDHresultsfrom a deficiency of branched chain alpha - ketoacid dehydrogenase ( BCKDH
amino acids from proteins to build up in the body , with very serious and possibly fatal effectscausesamino acids from proteins to build up in the body , with very serious and possibly fatal effects