| a case of portosystemic encephalpathy?
My one year old son has fluctuating hyperammonemia ranging from 80-170 of unknown origin .(measured more than 20 times)
high bile acid 25,5
No urea cycle defect
• Normal lactic acid
• Normal orotic acid
• Normal amino acid in : CSF and plasma and urine
• Note that :-- Glutamine is below the normal range (repeated many times) also done in C S F
• Normal organic acid
• Normal carnitine
• Normal asylcarintine profile
• he is globally delayed. But with normal ( 5) month brain MRI.
• other blood tests normal ( including electrolytes , vitamins, minerals)
• the boy is severely mentally retarded and hypotonic
• he was having seizures since day 13 of birth but stopped without medications.
• The boy is thoroughly investigated metabolically but the results came up negative.
• No urine growth of urea splitting organism
• Never given valporic acid
• Doctors here said they don’t know about such case
normal liver function including normal ggtp
I am not a doctor but I believe in that my boy is having some sort of porto systemic encephalopathy am i correct?
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