3. LESCH- NyAANLINKED
SyNDRoME
INHERITAN CE.
X-
LNTRODucrION Rans. disobde of
IS a ibened
ey of puine mea bo lism.
Salvage pat Hypo usi
amia
Þ is Causes of
One of
Liye Biths.
gnidente
Affcts Bys
DEFECT Gene
En3yme HGPRT)
Codes fo Guanine ase
Hypoxantsine feroase
Rcbosyl-
Toms
Phospho
Salvage Pa,
way
Tusine
Defe f puing
disrpton of Recycling
Purines not Salvagd aid
EFFECT Usic
doonto
bken
Tuines uicaid-Blood)
Gamia
(T
Hypa uai
FEATURES - s yEAf oF
CAIN TCAL
SyproM
Appes in F AFE.
Symp TDMS
A TRIAD OF Nepanli bosis
Menae Retation
Self Gaty Atshs
Mufilahon
, OTHERS
1·Neuological ahnomalthes
Srveota musde movemat
Srte llecal disabilit
Lan ning hsabty
AqavstiyenesS
2-gmpaird keal tunchon
|3- ORANGE Co Lou RED DEPoSITS ORANGE SAND
dispos of infmts hit LN Syndome
4 Deat in ixt 0yo7 Se lond
fst detodle of life
due to RENAL FATLURE.
NEUROLOGI CAL
BTOCHE MI CAL BAS)S DF
Mani festations : BRAIN
DenovoSyn esis of Puines
is Nglgik
theefose de pendant
e BRAN is Lnosine Mono Phosrhat
SALVAGE PATHWAY FoR
(TMP)
GuoNcSTINE NONO PtesnHATE (GMP)
LAck of IMP SGMP
Mami ation
fslation why
Neop shycabie Marm
Role in SiGNAL
Guerine Nocleotides TRANSDUION
thnvgh G- Potein
Catcade fematien cf
Sseniae for
and Ae e
DoPA MINE, EP INEPHRINE
NOR- PINEPHRINE g NTRIC OXI DE
SyNDRoME
INHERITAN CE.
X-
LNTRODucrION Rans. disobde of
IS a ibened
ey of puine mea bo lism.
Salvage pat Hypo usi
amia
Þ is Causes of
One of
Liye Biths.
gnidente
Affcts Bys
DEFECT Gene
En3yme HGPRT)
Codes fo Guanine ase
Hypoxantsine feroase
Rcbosyl-
Toms
Phospho
Salvage Pa,
way
Tusine
Defe f puing
disrpton of Recycling
Purines not Salvagd aid
EFFECT Usic
doonto
bken
Tuines uicaid-Blood)
Gamia
(T
Hypa uai
FEATURES - s yEAf oF
CAIN TCAL
SyproM
Appes in F AFE.
Symp TDMS
A TRIAD OF Nepanli bosis
Menae Retation
Self Gaty Atshs
Mufilahon
, OTHERS
1·Neuological ahnomalthes
Srveota musde movemat
Srte llecal disabilit
Lan ning hsabty
AqavstiyenesS
2-gmpaird keal tunchon
|3- ORANGE Co Lou RED DEPoSITS ORANGE SAND
dispos of infmts hit LN Syndome
4 Deat in ixt 0yo7 Se lond
fst detodle of life
due to RENAL FATLURE.
NEUROLOGI CAL
BTOCHE MI CAL BAS)S DF
Mani festations : BRAIN
DenovoSyn esis of Puines
is Nglgik
theefose de pendant
e BRAN is Lnosine Mono Phosrhat
SALVAGE PATHWAY FoR
(TMP)
GuoNcSTINE NONO PtesnHATE (GMP)
LAck of IMP SGMP
Mami ation
fslation why
Neop shycabie Marm
Role in SiGNAL
Guerine Nocleotides TRANSDUION
thnvgh G- Potein
Catcade fematien cf
Sseniae for
and Ae e
DoPA MINE, EP INEPHRINE
NOR- PINEPHRINE g NTRIC OXI DE
