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Tay-Sachs disease

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Tay-Sachs disease' Classification & external resources


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Tay-Sachs disease (a..reviated TSD, also kno/n as 012( gangliosidosis0) is a genetic disorder, fatal in its most common variant kno/n as Infantile Tay-Sachs disease$ TS3 is inherited in an autosomal recessive pattern$ The disease occurs /hen harmful 4uantities of a fatty acid derivative called a ganglioside accumulate in the nerve cells of the .rain$ 1angliosides are lipids, components of cellular mem.ranes, and the ganglioside 12(, implicated in Tay5Sachs disease, is especially common in the nervous tissue of the .rain$ The disease is named after the 6ritish ophthalmologist Warren Tay /ho first descri.ed the red spot on the retina of the eye in '))', and the 7merican neurologist 6ernard Sachs /ho descri.ed the cellular changes of Tay5Sachs and noted an increased prevalence in the !astern !uropean Je/ish (7shkena8i) population in '))"$ 9t has .een suggested that asymptomatic carriers of Tay5Sachs (those /ith one defective version of :!;7 and one normal gene) may have a selective advantage, .ut this has never .een proven$ Research in the late (%th century demonstrated that Tay5Sachs disease is caused .y mutations on the :!;7 gene on chromosome '#$ 7 large of :!;7 mutations have .een discovered, and ne/ ones are still .eing reported$ These mutations reach significant fre4uencies in several populations$ French <anadians of southeastern and <a>uns of southern ?ouisiana have a carrier fre4uency similar to 7shkena8i Je/s, .ut they carry a different mutation$ 2ost :!;7 mutations are rare, and do not occur in genetically isolated populations$ The disease can potentially occur from the inheritance of t/o unrelated mutations in the :!;7 gene, one from each parent$



' Symptoms ( !tiology and pathogenesis & Testing and prevention , Therapy # !pidemiology + References " !Bternal links

[edit] Symptoms

Fundus photograph sho/ing retina changes associated /ith Tay5Sachs disease$ Tay5Sachs is classified in variant forms, .ased on the time of onset of neurological symptoms$@'A The variant forms reflect diversity in the mutation .ase$ 7ll patients /ith Tay5Sachs have a 0cherry5red0 spot, easily o.serva.le .y a physician using an ophthalmoscope, in the .ack of their eyes (the retina)$ This red spot is the area of the retina /hich is accentuated .ecause of gangliosides in the surrounding retinal ganglion cells (/hich are neurons of the central nervous system)$ The choroidal circulation is sho/ing through 0red0 in this region of the fovea /here all of the retinal ganglion cells are normally pushed aside to increase visual acuity$ Thus, the cherry5red spot is the only normal part of the retina seen$ 2icroscopic analysis of neurons sho/s that they are distended from eBcess storage of gangliosides$

In antile TSD! 9nfants /ith Tay5Sachs disease appear to develop normally for the first siB months of life$ Then, as nerve cells .ecome distended /ith gangliosides, a relentless deterioration of mental and physical a.ilities occurs$ The child .ecomes .lind, deaf, and una.le to s/allo/$ 2uscles .egin to atrophy and paralysis sets in$ 3eath usually occurs .efore the age of , or #$ "u#enile TSD! !Btremely rare, Juvenile Tay-Sachs disease usually presents itself in children .et/een ( and '% years of age$ They develop cognitive, motor, speech, and s/allo/ing difficultiesC unsteadiness of gait (ataBia), and spasticity$ Datients /ith Juvenile TS3 usually die .et/een #5'# years$@(A

$dult%&ate Onset TSD! 7 rare form of the disorder, kno/n as Adult Onset TaySachs disease or Late Onset Tay-Sachs disease (?ETS), occurs in patients in their (%s and early &%s$ ?ETS is fre4uently misdiagnosed, and is usually non5fatal$ 9t is characteri8ed .y unsteadiness of gait and progressive neurological deterioration$ Symptoms of ?ETS, /hich present in adolescence or early adulthood, include speech difficulties (dysarthria), s/allo/ing difficulties (dysphagia), unsteadiness of gait (ataBia), spasticity, cognitive decline, and psychiatric illness, particularly schi8ophrenic5like psychosis$ Datients /ith ?ETS fre4uently .ecome /heelchair5 .ound in adulthood, .ut many live full adult lives if psychiatric and physical difficulties are accommodated$ Dsychiatric symptoms and sei8ures can .e controlled /ith medications$ @&A@,A

[edit] 'tiolo(y and patho(enesis

Tay5Sachs disease is inherited in the autosomal recessive pattern, depicted a.ove$ The condition is caused .y insufficient activity of an en8yme called heBosaminidase 7 that cataly8es the .iodegradation of fatty acid derivatives kno/n as gangliosides$ :eBasaminidase 7 is a vital hydrolytic en8yme , found in the lysosomes, that .reaks do/n lipids$ When :eBasaminidase 7 is no longer functioning properly, the lipids accumulate in the .rain and cause pro.lems$ 1angliosides are made and .iodegraded rapidly in early life as the .rain develops$ Datients and carriers of Tay5Sachs disease can .e identified .y a simple .lood test that measures heBosaminidase 7 activity$ TS3 is a recessive genetic disorder, meaning that .oth parents must .e carriers in order to give .irth to an affected child$ !ven then, there is only a (#F chance /ith each pregnancy of having a child /ith TS3$ Drenatal monitoring of pregnancies is availa.le$ :ydrolysis of 12(5ganglioside re4uires three proteins$ T/o of them are su.units of heBosaminidase 7, and the third is a small glycolipid transport protein, the 12( activator protein (12(7), /hich acts as a su.strate specific cofactor for the en8yme$ 3eficiency in any one of these proteins leads to storage of the ganglioside, primarily in the lysosomes of neuronal cells$ Tay5Sachs disease (along /ith 12(5gangliosidosis and Sandhoff disease) occurs .ecause a genetic mutation inherited from .oth parents inactivates or inhi.its this process$ 2ost Tay5Sachs mutations appear not to affect functional elements of the protein$ 9nstead, they cause incorrect folding or of the en8yme, so that intracellular transport is disa.led$ @#A The disease results from mutations on chromosome '# in the HEXA gene encoding the alpha5su.unit of the lysosomal en8yme .eta5G5acetylheBosaminidase 7$ 2ore than *% mutations have .een identified to date in the :!;7 gene, and ne/ mutations are still .eing reported$ These mutations have included .ase pair insertions and deletions, splice site mutations, point mutations, and other more compleB patterns$ !ach of these mutations alter the protein product, and thus the function of the en8yme in some

manner$ 9n recent years, population studies and pedigree analysis have sho/n ho/ such mutations arise and spread /ithin small founder populations$ For eBample, a four .ase pair insertion in eBon '' ('(")insT7T<) results in an altered reading frame for the :!;7 gene$ This mutation is the most prevalent mutation in the 7shkena8i Je/ish population, and leads to the infantile form of Tay5Sachs disease$@+A The same mutation occurs in the <a>un population of southern ?ouisiana, an 7merican ethnic group that has .een isolated for several hundred years .ecause of linguistic differences$ Researchers have speculated that it may have entered this population .ecause a Je/ish merchant family assimilated into <a>un society$ 7n unrelated mutation, a long se4uence deletion, occurs /ith similar fre4uency in families /ith French <anadian ancestry, and has the same pathological effects$ ?ike the 7shkena8i Je/ish population, the French <anadian population gre/ rapidly from a small founder group, and remained isolated from surrounding populations .ecause of geographic, cultural, and language .arriers$ 9n the early days of Tay5Sachs research, the mutations in these t/o populations /ere .elieved to .e identical$ Some researchers claimed that a prolific Je/ish ancestor must have introduced the mutation into the French <anadian population$ This theory .ecame kno/n as the 0Je/ish Fur Trader :ypothesis0 among researchers in population genetics$ :o/ever, su.se4uent research has demonstrated that the t/o mutations are unrelated, and pedigree analysis has traced the French <anadian mutation to a founding family that lived in southern in the late '"th century$@"A Tay5Sachs 3isease can potentially result from the inheritance of t/o unrelated mutations in the :!;7 gene, one from each parent$ <lassic infantile TS3 results /hen a child has inherited mutations from .oth parents that completely inactivate the .iodegradation of gangliosides$ ?ate onset forms of the disease occur .ecause of the diverse mutation .ase$ Datients may technically .e hetero8ygotes, .ut /ith t/o different :!;7 mutations that .oth inactivate, alter, or en8yme activity in some /ay$ When a patient has at least one copy of the :!;7 gene that still ena.les some heBosaminidase 7 activity, a later onset form of the disease occurs$

[edit] Testin( and p)e#ention

Screening for Tay5Sachs disease /as one of the first great successes of the emerging field of genetic counseling and diagnosis$ Je/ish communities, .oth inside and outside of 9srael, em.raced the cause of genetic screening from the '*"%s on$ Success /ith Tay5 Sachs disease lead 9srael to .ecome the first country to offer free genetic screening and counseling for all couples$ 9srael has .ecome a leading center for research on genetic disease$ 6oth the Je/ish and 7ra.-Dalestinian populations in 9srael contain many ethnic and religious minority groups, and 9srael s initial success /ith Tay5Sachs disease has lead to the development of screening programs for other diseases$ 1enetic screening for carriers of Tay5Sachs disease is possi.le .ecause an ineBpensive en8yme assay test is availa.le$ 9t detects lo/er levels of the en8yme heBosaminidase 7 in

serum$ 3eveloped during the '*"%s, the en8yme assay test is not as accurate as genetic testing .ased on polymerase chain reaction (D<R) techni4ues, ho/ever it is cost effective for much .roader use and allo/s screening for a disease that is rare in most populations$ D<R testing is more effective /hen the ancestry of .oth parents is kno/n, allo/ing for proper selection of genetic markers$ 1enetic counselors, /orking /ith couples that plan to conceive a child, assess risk factors .ased on ancestry to determine /hich testing methods are appropriate$ Droactive testing has .een 4uite effective in eliminating Tays5Sachs occurrence amongst 7shkena8i Je/s$ Ef the '% .a.ies .orn /ith Tay5Sachs in Gorth 7merica in (%%&, none /ere .orn to Je/ish families$ 9n 9srael, only one child /as .orn /ith Tay5Sachs in (%%&, and preliminary results from early (%%# indicated that none /ere .orn /ith the disease in (%%,$ Three approaches have .een used to prevent or reduce the incidence of Tay5Sachs disease in the 7shkena8i Je/ish population:

P)enatal dia(nosis and selecti#e a*o)tion$ 9f .oth parents are identified as carriers, prenatal genetic testing can determine /hether the fetus has inherited a defective copy of the gene from .oth parents$ For couples /ho are /illing to terminate the pregnancy, this eliminates the risk of Tay5Sachs, .ut selective a.ortion raises ethical issues for many families$@)A Mate selection$ 9n ErthodoB Je/ish circles, the organi8ation 3or Heshorim carries out an anonymous screening program so that couples /ho are likely to conceive a child /ith Tay5Sachs or another genetic disorder can avoid marriage$@*A Gomi Stone of 3artmouth <ollege this approach$ 0ErthodoB Je/ish high school students are given .lood tests to determine if they have the Tay5Sachs gene$ 9nstead of receiving direct results as to their carrier status, each person is given a siB5digit identification$ <ouples can call a hotline, if .oth are carriers, they /ill .e deemed incompati.le$ 9ndividuals are not told they are carriers directly to avoid any possi.ility of stigmati8ation or discrimination$ 9f the information /ere released, carriers could potentially .ecome unmarriagea.le /ithin the community$0 7nonymous testing eliminates the stigma of carriership /hile decreasing the rate of homo8ygosity in this population$ Stone notes that this approach, /hile effective /ithin a confined population such as :asidic or ErthodoB Je/s, may not .e effective in the general population$@'%A P)eimplantation (enetic dia(nosis$ 6y retrieving the mother s eggs for in vitro fertili8ation and conceiving a child outside the /om., it is possi.le to test the em.ryo prior to implantation$ Enly healthy em.ryos are selected for transfer into the mother s /om.$ 9n addition to Tay5Sachs disease, D13 has .een used to prevent cystic fi.rosis, sickle cell anemia, :untington disease, and other genetic disorders$@''A :o/ever this method is eBpensive$ 9t re4uires invasive medical technologies, and is .eyond the financial means of many couples$

[edit] The)apy

There is currently no cure or treatment for TS3$ !ven /ith the .est care, children /ith 9nfantile TS3 die .y the age of #, and the progress of ?ate5Enset TS3 can only .e slo/ed, not reversed$ :o/ever, research is ongoing$ Several methods of treatment are .eing investigated, although significant hurdles remain .efore any of them pass the eBperimental stages$

'n+yme )eplacement the)apy$ The goal /ould .e to replace the missing en8yme, a process similar to insulin in>ections for dia.etes$ :o/ever, the en8yme has proven to .e too large to pass through the .lood into the .rain through the .lood5.rain .arrier$ 6lood vessels in the .rain develop >unctions so small that many toBic (or large) molecules cannot enter into nerve cells and cause damage$ Researchers have also tried instilling the en8yme into cere.rospinal fluid, /hich .athes the .rain$ :o/ever, neurons are una.le to take up the large en8yme efficiently even /hen it is placed neBt to the cell, so the treatment is still ineffective$ ,ene the)apy$ The most recent option eBplored .y scientists has .een gene therapy$ 9f the defective genes /ere to .e replaced throughout the .rain, Tay Sachs could theoretically .e cured$ :o/ever, researchers /orking in this field .elieve that they are years a/ay from the technology to transport the genes into neurons, /hich /ould .e as difficult as transporting the en8yme$ <urrently, most research involving gene therapy involves developing a method of using a viral vector to transfer ne/ 3G7 into neurons$ 7nother approach to gene therapy, under study at 3uke Iniversity, uses stem cells from um.ilical cord .lood in an effort to replace the defective gene$ 7lthough the 3uke Iniversity approach has .een effective /ith Jra..K disease, the researchers have not yet reported any results for Tay5Sachs$ Meta*olic the)apy$ Ether highly eBperimental methods .eing researched involve manipulating the .rain s meta.olism of 12( gangliosides$ Ene eBperiment has demonstrated that, .y using the en8yme sialidase, the genetic defect can .e effectively .ypassed and 12( gangliosides can .e meta.oli8ed so that they .ecome almost inconse4uential$ 9f a safe pharmacological treatment can .e developed, one that causes the increased eBpression of lysosomal sialidase in neurons, a ne/ form of therapy, essentially curing the disease, could .e on the hori8on$ 2eta.olic therapies under investigation for ?ate5Enset TS3 include treatment /ith the drug E1T *') ( avesca)$@'(A

[edit] 'pidemiolo(y
:istorically, !astern !uropean people of Je/ish descent (7shkena8i Je/s) have a high incidence of Tay5Sachs and other lipid storage diseases$ 3ocumentation of Tay5Sachs in this Je/ish population reaches .ack to '#th century !urope$ 9n the Inited States, a.out ' in (" to ' in &% 7shkena8i Je/s is a recessive carrier$ French <anadians and the <a>un community of ?ouisiana have an occurrence similar to the 7shkena8i Je/s$ 9rish

7mericans have a ' in #% chance of a person .eing a carrier$ 9n the general population, the incidence of carriers (hetero8ygotes) is a.out ' in &%%$ @'&A 7 continuing controversy is /hether hetero8ygotes, individuals /ho are carriers of one copy of the gene .ut do not actually develop the disease, have some selective advantage$ The classic case of hetero8ygote advantage is sickle cell anemia, and some researchers have argued that there must .e some evolutionary .enefit to .eing a hetero8ygote for Tay5Sachs as /ell$ Four different theories have .een proposed to eBplain the high fre4uency of Tay5Sachs carriers in the 7shkena8i Je/ish population:

-ete)o+y(ote ad#anta(e .ith tu*e)culosis )esistance$ 6eing a Tay5Sachs carrier may serve as a form of protection against tu.erculosis$ T6 s prevalence in the !uropean Je/ish population /as very high, in part .ecause Je/s /ere forced to live in ghettos$ :o/ever, several statistical studies have demonstrated that grandparents of Tay5Sachs carriers (/ho are more likely to have .een carriers themselves) died proportionally from the same causes as non5carriers$@',A -ete)o+y(ote ad#anta(e *ecause o hi(he) intelli(ence $ 7nother theory (attri.uted to 1regory <ochran) proposes that Tay5Sachs and the other lipid storage diseases that are prevalent in 7shkena8i Je/s may enhance dendrite gro/th and promote higher intelligence /hen present in carrier form, thus providing a selective advantage at a time /hen 7shkena8i Je/s /ere restricted to intellectual occupations$@'#A (See 7shkena8i intelligence$) /ep)oducti#e compensation$ Darents /ho lose a child .ecause of disease tend to 0compensate0 .y having additional children to replace them, and this may increase the incidence of autosomal recessive disease$@'+A 0ounde) e ect$ This hypothesis states that the high incidence of the '(")insT7T< mutation is the result of genetic drift, /hich amplified a high fre4uency that eBisted .y chance in an early founder population$

6ecause Tay5Sachs disease /as one of the first autosomal recessive genetic disorders for /hich there /as an en8yme assay test (prior to polymerase chain reaction testing methods), it /as intensely studied as a model for all such diseases$ The researchers of the '*"%s often favored theories of hetero8ygote advantage, .ut failed to find much evidence for them in human populations$ They /ere also una/are of the diversity of the Tay5Sachs mutation .ase$ 9n the '*"%s, complete genomes had not yet .een se4uenced, and researchers /ere una/are of the eBtent of polymorphism$ The contri.ution to evolution of genetic drift (as opposed to natural selection) /as not fully appreciated$ Since the '*"%s, 3G7 se4uencing techni4ues using D<R have .een applied to many genetic disorders, and in other human populations$ Several .road genetic studies of the 7shkena8i population (not related to genetic disease) have demonstrated that the 7shkena8i Je/s are the descendants of a small founder population, /hich may have gone through additional population .ottlenecks$ These studies also correlate /ell /ith historical information a.out 7shkena8i Je/s$ Thus, a preponderance of the recent studies have supported the ounde) e ects theory$@'"A@')A@'*A

[edit] /e e)ences
'$ 1 Gational 9nstitute of Geurological 3isorders and Stroke$ Tay5Sachs 3isease 9nformation Dage$ Retrieved on July (+, (%%+$ ($ 1 2oe, 23, Daul 1$ L Tim 7$ 6enke, 23, Dh3 ((%%#)$ 0Geurologic L 2uscular 3isorders0, Current !ediatric "ia#nosis & Treat$ent, '"th$ &$ 1 Rose.ush D9, 2ac=ueen 12, <larke JT, <allahan JW, Stras.erg D2, 2a8urek 2F$ ('**#)$ 0?ate5onset Tay5Sachs disease presenting as catatonic schi8ophrenia: diagnostic and treatment issues0$ Journal of Clinical !sychiatry 56 %&'( )*+-,)- D293 "+&#)#%,$ 1 Geudorfer E, Dastores 12, Meng 6J, 1ianutsos J, Maroff <2, Jolodny !: ((%%#)$ 0?ate5onset Tay5Sachs disease: phenotypic characteri8ation and genotypic correlations in (' affected patients0$ .enetics in /edicine 7 %0'( 112-0)- D293 '#"',%"*#$ 1 2ahuran 3J ('***)$ 06iochemical conse4uences of mutations causing the 12( gangliosidoses0$ 3iochi$ 3io4hys Acta 1455 %0-)'( 15,-)&- D293 '%#"'%%"+$ 1 Tel 7viv Iniversity, 3epartment of :uman 1enetics, 6ioinformatics Init$ 1enedis: :uman 1enetics 3isease 3ata.ase$ Retrieved on July (+, (%%+$ "$ 1 Jeats, 6$ J$, !lston, R$ <$, and 7ndermann, !$ ('*)")$ 0Dedigree discriminant analysis of t/o French <anadian Tay5Sachs families$0$ .enetic E4ide$iolo#y 4 %0'( ++-&,- D293 (*#&+,+)$ 1 Stoller, 3avid ('**")$ 0Drenatal 1enetic Screening: The !nigma of Selective 7.ortion0$ Journal of La6 and Health 12*$ 1 !kstein, J and Jat8enstein, : ((%%')$ 0The 3or Heshorim story: community5.ased carrier screening for Tay5Sachs disease$0$ Advances in .enetics 44( 02+-)15'%$ 1 Gomi Stone$ !rasing Tay5Sachs 3isease$ Retrieved on 7ugust '+, (%%+$ ''$ 1 Dreimplantation 1enetic 3iagnosis '($ 1 Jolodny, !$ :$C Geudorfer, E$C 1ianutsos, J$C Maroff, <$C 6arnett, G$C Meng, 6$C Raghavan, S$C Torres, D$C Dastores, 1$ ((%%,)$ 0?ate5onset Tay5Sachs disease: natural history and treatment /ith E1T *') (Mavesca@T2A)$0$ Source Journal of 7euroche$istry 90 %,*'- ISS7 5500-)5*0'&$ 1 Tel 7viv Iniversity, 3epartment of :uman 1enetics, 6ioinformatics Init$ 1enedis: :uman 1enetics 3isease 3ata.ase$ Retrieved on July (+, (%%+$ ',$ 1 Spyropoulos 6, 2oens D6, 3avidson J, and ?o/den J7$ ('*)')$ 0:etero8ygote advantage in Tay5Sachs carriersN0$ A$erican Journal of Hu$an .enetics (&): &"#5)%$ '#$ 1 1regory <ochran, Jason :ardy, and :enry :arpending$ Gatural :istory of 7shkena8i 9ntelligence$ Retrieved on Jan (*, (%%+$ '+$ 1 Joeslag, J: and Schach, SR ('*),)$ 0Tay5Sachs disease and the role of reproductive compensation in the maintenance of ethnic variations in the incidence of autosomal recessive disease0$ Annals of Hu$an .enetics (&): ("#5()'$ '"$ 1 Risch, G, Tang, :, Jat8enstein, :, !kstein, J ((%%&)$ 01eographic distri.ution of disease mutations in the 7shkena8i Je/ish population supports genetic drift over selection0$ A$erican Journal of Hu$an .enetics 72 %*'( &10-&00')$ 1 Frisch 7, <olom.o R, 2ichaelovsky !, Jarpati 2, 1oldman 6, Deleg ?$ ((%%,)$ 0Erigin and spread of the '(")insT7T< mutation causing Tay5Sachs disease in 7shkena8i Je/s: genetic drift as a ro.ust and parsimonious hypothesis$0$ Hu$an .enetics 114 %*'( )88-+8- D293 ',"("')%'*$ 1 Slatkin, 2 ((%%,)$ 07 population5genetic test of founder effects and implications for 7shkena8i Je/ish diseases0$ A$erican Journal of Hu$an .enetics 75 %0'( 0&0-02)-

[edit] '2te)nal lin3s

Gational Tay5Sachs L 7llied 3iseases 7ssociation G9G3S Tay5Sachs 3isease 9nformation Dage tay5sachs$org Tay5Sachs disease, .enetics Ho$e 9eference at G?2

Meta*olic patholo(y 4'50-906@hideA

a$ino-acids Dhenylketonuria 5 7lkaptonuria 5 Echronosis 5 Tyrosinemia 5 2aple syrup urine disease 5 Dropionic acidemia 5 2ethylmalonic acidemia 5 9sovaleric acidemia 5 Drimary carnitine deficiency 5 <ystinuria 5 <ystinosis 5 :artnup disease 5 :omocystinuria 5 <itrullinemia 5 :yperammonemia 5 1lutaric acidemia type ' car:ohydrates ?actose intolerance 5 1lycogen storage disease (type 9, type 99, type 999, type 9P, type P), Fructose intolerance, 1alactosemia Li4id stora#e disorders Sphingolipidoses: 1angliosidosis 5 12( gangliosidoses (Sandhoff disease, Tay-Sachs disease) 5 12' gangliosidoses 5 2ucolipidosis type 9P 5 1aucher s disease 5 Giemann5 Dick disease 5 disease 5 Fa.ry s disease 5 2etachromatic leukodystrophy 5 Jra..e disease Geuronal ceroid lipofuscinosis (6atten disease) 5 <ere.rotendineous Banthomatosis 5 Wolman disease 5 <holesteryl ester storage disease ?ist of fatty acid meta.olism disorders 5 :yperlipidemia 5 :ypercholesterolemia 5 Familial hypercholesterolemia 5 ;anthoma 5 <om.ined hyperlipidemia 5 ?ecithin cholesterol acyltransferase deficiency 5 Tangier disease 5 7.etalipoproteinemia $ineral $eta:olis$ Cu Wilson s disease-2enkes disease 5 ;e :aemochromatosis 5 n 7crodermatitis enteropathica 5 !O*)- :ypophosphatemia-:ypophosphatasia 5 /#0< :ypermagnesemia-:ypomagnesemia 5 Ca0< :ypercalcaemia-:ypocalcaemia-3isorders of calcium meta.olism fluid= electrolyte and acid-:ase :alance !lectrolyte distur.ance 5 7a< :ypernatremia-:yponatremia 5 7cidosis (2eta.olic, Respiratory, ?actic) 5 7lkalosis (2eta.olic, Respiratory) 5 2iBed disorder of acid5.ase .alance 5 H0O 3ehydration-:ypervolemia 5 >< :ypokalemia-:yperkalemia 5 Cl:yperchloremia-:ypochloremia 4or4hyrin and :iliru:in 7catalasia 5 1il.ert s syndrome 5 <rigler5Ga>>ar syndrome 5 3u.in5Johnson syndrome 5 Rotor syndrome 5 Dorphyria (7cute intermittent porphyria, 1unther s disease, Dorphyria cutanea tarda, !rythropoietic protoporphyria, :epatoerythropoietic porphyria, :ereditary coproporphyria, Pariegate porphyria) #lycosa$ino#lycan 2ucopolysaccharidosis 5 :urler syndrome 5 :unter syndrome 5 Sanfilippo syndrome 5 2or4uio syndrome #lyco4rotein 95cell disease 5 Dseudo5:urler polydystrophy 5 7spartylglucosaminuria 5 Fucosidosis 5 7lpha5mannosidosis 5 Sialidosis other 7lpha '5antitrypsin deficiency 5 <ystic fi.rosis 5 Familial 2editerranean fever 5 ?esch5Gyhan syndrome

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