Glucose Phosphate Isomerase (GPI) deficiency
The table is being populated as more cases are being discovered.

 Case Name
 GPI Los Angeles
GPI London
 GPI  New York
GPI San Francisco
 DOB  26 Sept 2011
 27 Sept 2010
 Sex  Male  Female    
 Mutation  New mutation
 New mutation
 Other problems?
 Known Allergies (eggs, bananas)
IUGR Intrauterine growth restriction
Conjugated hyperbilirubinemia with abnormal liver dysfunction at birth (now resolving)

 Transfusion Frequency
4 weeks (Hb before transfusion: 9-10)
4 weeks (Hb before transfusion 9.5-10)    
 Transfusion at birth?
 Yes (Hb at birth: 5.4)
 Yes (Hb at birth: 5.6)
 Growth  5th percentile for height and weight
 2nd percentile for height and weight
 Spleenectomy  No
 Iron medications
 Not yet
 Potential cure for anemia
 Considering BMT
 Seizures  Started at 6 month. Approx 100 episodes/day, each ~5 sec. When ill (e.g. flue) seizures last up to 10 minutes and are severe.
 Seizure Meds
 Clonazepam (reduced seizure frequency from ~100/day to ~20/day), Keppra (not effective), Topamax (not effective).  No    
 Hypotonia  At 15 months still lack of head control. Does not crawl. Flips from stomach to back.
 Can not sit unsupported. Does not crawl. Flips from back to front and front to back.
Hypotonia Treatment
 PT, OT, and Infant Stimulation 1 hr/wk plus in-home exercises (2 hr/day)  PT and OT 3x/day
 Development Delays
 Does not reach out for toys and shows little interest in surroundings.
 At the age 2, can not sit unsupported. Has a slow hand movement resulting in a slow grasp. Speech delays.
 Doctor  Dr. Thomas Coates  Dr. Subarna Chakravothy
 Hospital  Children's Hospital, Los Angeles  St Mary's Hospital, London
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