Lipidoses

LIPIDOSES

Deficiencia em acetilneuramilnilgalactosilglicosilceramidoaciltransferase

Ver Gangliosidose GM3

Deficiencia em alfa-galactosidase

Ver DOENÇA DE FABRY

Deficiencia em arilsulfatase

Ver Leucodisreofia metacromatica

Deficiencia em betagalactosidase

Ver Gangliosidose GM1

Deficiencia em ceramidase

Ver doença de Farber

Deficiencia em esfingomielinase

Ver Doença de Nieman- Pick

Deficiencia em hexosaminidase A

Ver Doença de Tay- Sachs

Ver Gangliosidose GM2

Doença de Fabry

Causas

Actividade deficiente da a-galactosidase

Acumulação de glicoesfingolipidos, nomeadamente globotrisialoceramidas nascélulas

Esta acumulação de glicoesfingolipidos provoca tumefacção e proliferação das células endoteliais com alteração dofluxo sanguíneo no cérebro e vasos periféricos

É ums doença lisosomica

.

Hereditariedade

Ligada ao X

Prevalencia´

80 casos descrito

Sintomas

• Acroparesresia(dot nas extremidades) devida a lesoes vasculares
• Dores intestinais devidas à acumulaçao de pequenas  paticulssm metsbolicas na prquena circulaçao
• Os rine são seriamente atingidoeo
• Apresença de proteinas  na urina é,por vezes um sinal inicial de diagnostico
• Angioquerariose
• Anidrose
• ´Fenomeno de Raynaud´
• sornra verrticilada
• Turvaçao da cornea
• Fadiga
• Neuropstis
• Risco de AVC

Tratamento

Peopos-se vum ERT( enzime replscement v theraoy.o 

FABRAZME , produto co´rividades semelhantes ao que falta  no organismo.A acção não é completa mas  mrlhota muito sintomas e actua sobre a ptogressao da

• 
  
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http://textoselinkssobrebioquinmicaesaude.blogspot.pt/2013/05/metabolismo-dos-lipidos.html

cap 10

http://en.wikipediaa.org/wiki/Fabry_disease

http://emedicine.medscape.com/article/1952086-overview~

http://ghr.nlm.nih.gov/condition/fabry-disease

http://www.fabry.org/fsig.nsf/pages/fabry

http://www.medicinenet.com/fabrys_disease/article.htm

http://www.webmd.com/a-to-z-guides/fabry-disease

http://www.omim.org/entry/301500

http://www.patient.co.uk/doctor/anderson-fabry-disease

Doença de Farber

http://en.wikipedia.org/wiki/Farber_disease

http://www.ped-rheum.com/content/5/1/15

http://www.rightdiagnosis.com/f/farbers_disease/intro.htm

http://www.ninds.nih.gov/disorders/Farbers/farbers.htm

http://ghr.nlm.nih.gov/condition/farber-lipogranulomatosis

http://www.omim.org/entry/228000

http://www.medindia.net/patients/patientinfo/farber-disease.htm

Doença de Gaucher

http://textoselinkssobrebioquinmicaesaude.blogspot.pt/2013/05/metabolismo-dos-lipidos.html

cap 10

http://en.wikipedia.org/wiki/Gaucher's_disease

http://ghr.nlm.nih.gov/condition/gaucher-disease

http://emedicine.medscape.com/article/944157-overview

http://www.mayoclinic.org/diseases-conditions/gauchers-disease/basics/definition/con-20031396

http://www.webmd.com/a-to-z-guides/gauchers-disease-symptoms-causes-treatments

https://www.genome.gov/25521505

http://www.patient.co.uk/doctor/Gaucher's-Disease.htm

http://www.medicinenet.com/gaucher_disease/article.htm

Doença de Nieman – Pick

http://en.wikipedia.org/wiki/Niemann%E2%80%93Pick_disease

http://ghr.nlm.nih.gov/condition/niemann-pick-disease

http://www.nlm.nih.gov/medlineplus/ency/article/001207.htm

http://www.nnpdf.org/npdisease_01.html

http://emedicine.medscape.com/article/951564-overview

http://www.omim.org/entry/257200

Doença de Sandoff

Ver Gangliosidose GM3

Doença de Tay- Sachs

http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease

http://ghr.nlm.nih.gov/condition/tay-sachs-disease

http://kidshealth.org/parent/medical/genetic/tay_sachs.html

https://www.genome.gov/10001220

http://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/basics/definition/con-20036799

http://www.nhs.uk/conditions/tay-sachs-disease/pages/introduction.aspx

http://www.omim.org/entry/272800

Gangliosidose GM1

http://textoselinkssobrebioquinmicaesaude.blogspot.pt/2013/05/metabolismo-dos-lipidos.html

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http://ghr.nlm.nih.gov/condition/gm1-gangliosidosis

http://en.wikipedia.org/wiki/GM1_gangliosidoses

http://emedicine.medscape.com/article/951637-overview

http://www.omim.org/entry/230500

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=354

http://www.sciencedirect.com/science/article/pii/S0925443999000757

http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0120-87482012000100005

Gangliosidose GM2 ( Doença de Sandhoff)

http://textoselinkssobrebioquinmicaesaude.blogspot.pt/2013/05/metabolismo-dos-lipidos.html

cap 10

http://en.wikipedia.org/wiki/Sandhoff_disease

http://ghr.nlm.nih.gov/condition/sandhoff-disease

http://www.rightdiagnosis.com/s/sandhoff_disease/intro.htm

http://emedicine.medscape.com/article/951943-overview

http://www.omim.org/entry/272750

http://pediatrics.aappublications.org/content/128/5/e1233.full.pdf

http://www.nature.com/mt/journal/v20/n8/full/mt201244a.html

Gangliosidose GM 3

http://www.rightdiagnosis.com/medical/gangliosidosis_gm3.htm

MUCOLIPIDOSES  E MUCOSACARIDOSES

Mucolipidoses

TEXTOS

http://www.ninds.nih.gov/disorders/mucolipidoses/detail_mucolipidoses.htm

DEFICIENCIA EM SIALIDASE

Ver Mucolipidose tipo I

DISTROFIA PSEUDO HURLER

Ver Mucolipidoses tipo IIIA

I-CELL DISEASE

Ver MUCOLIPIDOSE TIPO II

MUCOLIPIDOSE TIPO I

http://www.omim.org/entry/250100

http://en.wikipedia.org/wiki/Sialidosis

http://www.rightdiagnosis.com/n/neuraminidase_deficiency_type_ii_juvenile_form/intro.htm

http://emedicine.medscape.com/article/948704-overview

http://www.ninds.nih.gov/disorders/mucolipidoses/detail_mucolipidoses.htm

http://ghr.nlm.nih.gov/condition/sialidosis

MUCOLIPIDOSE TIPO II

http://emedicine.medscape.com/article/945460-overview

http://www.ncbi.nlm.nih.gov/books/NBK1828/

http://emedicine.medscape.com/article/945460-overview

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=576

http://omim.org/entry/252500

http://www.ldnz.org.nz/lysosomal_diseases/list_of_lysosomal_disorders/mucolipidosis_type_iii

MUCOLIPIDOSE TIPO III

http://www.nzord.org.nz/introduction/other_new_zealanders_stories/one_familys_journey_with_mucolipidosis_type_3

MUCOLIPIDOSE TIPO IIIA

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=577

http://www.ncbi.nlm.nih.gov/books/NBK1875/

http://www.omim.org/entry/252600

MUCOLIPIDOSE III ALFA/ BETA

Ver Mucolipidose tipo IIIA

MUCOLIPIDOSE III GAMA

http://www.ismrd.org/glycoprotein_diseases/mucolipidosis_iii

http://ghr.nlm.nih.gov/condition/mucolipidosis-iii-gamma

MUCOLIPIDOSE TIPO IV

http://en.wikipedia.org/wiki/Mucolipidosis_type_IV

http://www.ncbi.nlm.nih.gov/books/NBK1214/

http://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv

http://www.pnas.org/content/95/3/1207.full

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=577

http://www.nzord.org.nz/introduction/other_new_zealanders_stories/one_familys_journey_with_mucolipidosis_type_3

http://www.mpssociety.org.uk/files/7813/6914/1934/Guide-MLIII-2013.pdf

http://www.ldnz.org.nz/lysosomal_diseases/list_of_lysosomal_disorders/mucolipidosis_type_iii

http://www.ml4.org/

http://www.omim.org/entry/252650

http://hmg.oxfordjournals.org/content/9/17/2471.full

https://www.jewishgenetics.org/mucolipidosis-iv-mliv

https://results.gentlelabs.com/mucolipidosis-type-iv

Mucopolisacaridoses

TEXTOS

http://en.wikipedia.org/wiki/Mucopolysaccharidosis

http://emedicine.medscape.com/article/1258678-overview

http://www.med.upenn.edu/orphandisease/docs/Mucopolysaccharidoses.pdf

DEFICIENCIA EM ALFA IDURONIDASE

Ver mucopolisacaridose tipo I

DEFICIENCIA EM BETA GLICURONIDASE

Ver Mucopolisacaridose tipo VII

DEFICIENCIA EM HEPARANA SULFATASE

Ver Polisacaridose tipo IIIb

DEFICIENCIA EM IDURONATO SULFATASE

Ver Mucopolisaridaridose tipo II

DOENÇA DE HUNTER

Ver Mucopolisacaridase tipo II

DOENÇA DE HURLER

Ver Mucopolisacaridose tipo I

DOENÇA DE MAROTEAUX- LAMY

Ver Mucopolicacaridose tipo VI

DOENÇA DE MORQUIO

Ver Mucopolisacaridose  tipo IVB

DOENÇA DE SANFILIPPO

Ver Polisacaridose tipo III

DOENÇA DE SCHELE

Ver Mucopolicaridose tipo V

DOENÇA DE SLY

Ver Polisacaridase tipo VII

MUCOPOLISACARIDOSE TIPO I

http://en.wikipedia.org/wiki/Hurler_syndrome

http://rarediseases.about.com/od/rarediseasesh/a/hurler.htm

http://omim.org/entry/269920

http://ghr.nlm.nih.gov/condition/sialic-acid-storage-disease

http://www.nlm.nih.gov/medlineplus/ency/article/001204.htm

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=579

http://emedicine.medscape.com/article/1599374-overview

http://www.nature.com/gim/journal/v5/n4/full/gim200346a.html

MUCOPOLISACARIDOSE TIPO II

http://en.wikipedia.org/wiki/Hunter_syndrome

http://www.caducee.net/DossierSpecialises/genetique/maladie-hunter.asp

http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-ii

http://www.omim.org/entry/309900

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=580

http://emedicine.medscape.com/article/944723-overview

http://www.babysfirsttest.org/newborn-screening/conditions/mucopolysaccharidosis-type-ii

http://www.ojrd.com/content/6/1/72

http://jasonandjustinsjourneyx2.com/what-is-mps-2/

MUCOPOLISACARIDOSE TIPO III

http://en.wikipedia.org/wiki/Sanfilippo_syndrome

http://emedicine.medscape.com/article/948540-overview

http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=581.0

http://www.ojrd.com/content/6/1/43

MUCOPOLISACARIDOSE TIPO IIIA

http://www.omim.org/entry/252900

http://glycob.oxfordjournals.org/content/9/12/1389.full

http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/61820

http://www.sciencedirect.com/science/article/pii/S2214426914000615

MUCOPOLISACARIDOSE TIPO IIIB

http://www.omim.org/entry/252920

http://en.wikipedia.org/wiki/Sanfilippo_syndrome

http://rarediseases.info.nih.gov/gard/7072/mucopolysaccharidosis-type-iiib/resources/1

http://www.bonchien.com/MPSIIIB.html

https://clinicaltrials.gov/ct2/show/NCT01509768

http://jmg.bmj.com/content/36/1/28.full

http://www.cags.org.ae/pdf/252920.pdf

MUCOPOLISACARIDOSE TIPO IIIC

http://www.omim.org/entry/252930

http://rarediseases.info.nih.gov/gard/7073/mucopolysaccharidosis-type-iiic/resources/1

http://www.montreal-diabetes-research-center.org/en/pshezhetsky/gene1.pdf

MUCOPOLISACARIDOSE TIPO IIID

http://www.omim.org/entry/252940

http://www.ncbi.nlm.nih.gov/pubmed/20232353

http://rarediseases.info.nih.gov/gard/7074/mucopolysaccharidosis-type-iiid/resources/1

MUCOPOLISACARIDOSE TIPO IVA

http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv

http://emedicine.medscape.com/article/947254-overview

http://www.omim.org/entry/253000

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=582.0

http://www.arianascure.com/edcd.pdf

MUCOPOLISACARIDOSE TIPO IVB

http://emedicine.medscape.com/article/951637-overview

http://www.omim.org/entry/253010

http://disorders.eyes.arizona.edu/category/alternate-names/mucopolysaccharidosis-type-ivb

MUCOPOLISACARIDOSE TIPO V

http://www.omim.org/entry/607016

MUCOPOLISACARIDOSE TIPO VI

http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vi

http://emedicine.medscape.com/article/946474-overview

http://www.omim.org/entry/253200

http://bmt.umn.edu/maroteaux-lamy-syndrome-mucopolysaccharidosis-type-vi

http://www.ojrd.com/content/5/1/5

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=583

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572008000200007

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-39842002000500013

MUCOPOLISACARIDOSE TIPO VII

http://en.wikipedia.org/wiki/Sly_syndrome

http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii

http://www.omim.org/entry/253220

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=584

http://emedicine.medscape.com/article/944298-overview

http://www.nature.com/jp/journal/v23/n1/full/7210844a.html

http://www.nature.com/pr/journal/v47/n6/full/pr2000128a.html

MUCOPOLISARIDOSE TIPO IX

http://www.omim.org/entry/601492

http://ghr.nlm.nih.gov/gene/HYAL1

https://www.preventiongenetics.com/clinical-dna-testing/test/mucopolysaccharidosis-type-ix-via-the-hyal1-gene/2664/

SIALIDOSE

Ver Mucolipidose tipo I