Inborn Errors- Taylor- 2 Flashcards
Inheritance
Pompe Disease
Autosomal recessive
Inheritance
Hunter
X-linked recessive
Inheritance
Hurler
Autosomal recessive
Age of onset
Pompe Disease
Infantile: present at 3-6 months; dead at 1 year (w/o Rx)
Childhood: not likely tested on
Adult: slowly progressive muscle weakness
Age of onset
Hunter
Childhood
Age of onset
Hurler
Childhood
Clinical Presentation
Pompe Disease
Infant with progressive muscle weakness and LVH
Adult with proximal muscle weakness and respiratory weakness (sleep apnea)
Clinical Presentation
Hunter
Coarse facies, airway disease, ear infections, hoarse voice, NO corneal clouding
Clinical Presentation
Hurler
Coarse facies, airway disease, ear infections, hoarse voice, + corneal clouding, hearing loss
Lab/Imaging
Pompe Disease
Elevated CK; no cherry red spot; normal liver/spleen; glycogen on muscle biopsy
Lab/Imaging
Hunter
Hepatosplenomegaly, short stature
Lab/Imaging
Hurler
Hepatosplenomegaly, short stature,
Organs Involved
Pompe Disease
Skeletal muscles (all); heart (infant)
Organs Involved
Hunter
Brain, airway, liver, heart valves, skeleton
Organs Involved
Hurler
Brain, airway, liver, heart valves, skeleton
Key Features
Pompe Disease
Infant with muscle weakness, high CK, and LVH on ECG
Adult with sleep apnea and trouble climbing stairs
Key Features
Hunter
Male only with above features and no corneal clouding
Key Features
Hurler
Probably a girl with this (so you know it’s not Hunter)
Enzyme deficient
Pompe Disease
Alpha-glucosidase
Enzyme deficient
Hunter
Iduronate sulfatase
Enzyme deficient
Hurler
Alpha iduronidase
Treatment
Pompe Disease
Alglucosidase alfa
Treatment
Hunter
Idursulfase
Treatment
Hurler
laronidase
