The Mechanisms for the various diseases are tremendously important
for our purposes. Whole complex of things going on. Respiratory
issues, there is an origin to the storage diseases. Hepatosplenomegaly,
somatic dysmorphism, skeletal/joint dyspla
Enzyme Replacement Therapy in Lysosomal Disorders:
7 month old girl referred for evaluation because of failure to thrive,
dysmoprhic features, and developmental delay.
Spontaneous vaginal delivery to 17 yr old g1 mother, uncomplicated
Hurlers syndrome and other storage diseases
Clinical Presentation of variant MPS I
Organolmegaly- you will see the gross enlargement of several of the
orans, macroglossia, umbilical or inguinal hernias, respiratory,
Three main types
Tuype 1 is non neuronopathic the most common
Splenomegaly, hepatomegaly, bone pain, fractures, avascular necrosis
Early infantile onset, hypertonia, seizures,
Urine Examination showed large excretion of dermatan and heparin
What is your diagnosis?
What is the enzyme deficiency?
Best time to use it as a cross populate the deficient cells, completed
and enzyme replacement therapy.
Is one of the historical lysosomal storage diseases.
It is an x-linked recessive condition (xq28)
There is a wide spectrum of severity ranging from mild to severe
The severe fomr presents similarly to MPS 1 with the exception of
Fabry Disease Contd
What are the specific childhood manifestations of the disease?
Fatigue and exercise intolerance
Angiokeratomoas espaically around the umbilicus and genital areas
GI sytmpoms, abdominal pains, nausea, diarrhea
Diagnosis by demonstrating absent or reuced acid maltase enzyme
acitivty in muscle, cultured fibroblast or blood spot. Supportive
therapy, enzyme replacement therapy using myozyme. Presented with
cardio, bronchiolitis. Send the kid to the hospit
Infuison-related adverse affects for ERt
Tend to pretreat them with Tylenol and Benadryl or another histamine
IV solumedrol, of onodcared fro untowaad effect
Epipen on standby for use in case anaplahltactic shock
Infusion at alow rate, with ramp
D because it is up, down up down up, meaning it is glucose
The anomeric hydroxyl is down iti s alpha, there is amore rigorpous
direction, trasn with in telation to c5
If it is fliiped over, all the orientatins are donw, but the cis trans