Deficit in ciclul ureei Mucopolizaharide tip1 Mucopolizaharide tip2 Boala Gaucher

Amoniac crescut in Otite X LINKATA Deficit de glucorebrozid

sange recurente,surdiatate, Acumulare heparan si beta glucozidaza
afectare craniu si dermatan sulfat
schelet
Au intelect normal
Fara acidoza metab Dozare act
Fara acid lactic glucocerebrozid in leu
Are doar hepatomegalie Sub 15% diagnostica
Diagnostic genetic
Se opreste Tx alpha iduronidaza The same Tx imigluceraza recomb.
alimentatia:fara aport recomb. Nu act.asa de bine pe
de proteine Transplant medular schelet

Cand suspectam boala metabolica?

Convulsii
Letargie Boala Gaucher
Hipo/hipertonie
Inapetenta
Hepatopatii
Cardiomiopatii/tulb.de ritm cardiac
Acidoza metabolica
Hipoglicemie Glicogenoza
Hiperamoniemie Deficit in ciclul ureei
Alcaloza respiratory
Cetoza
Acid lactic crescut in ser
Falimentul cresterii Boala Gaucher
Retardul psiho-motor MPZ tip 1
Coreoatetoza
Distonie
Hepatomegalie /Splenomegalie Boala Gaucher
Cardiopatie
Cataracta MPZ tip1
Glicogenoza
Hepatomegalie
Facies de papausa
Hipoglicemie
Hiperlactemie
Hipertrigliceridemie
Complicatii:adenoame

Tx:mese frecvente
Nutritie continua sonda
Ng
Regim hiperglucidic,fara
lactoza,fructoza,galactoza
Regim hipolipidic
Transplant hepatic