I will attempt case #2:
The child has Glycogen Storage Disease type I
The "fits" exhibited in the morning are seizures caused by hypoglycemia. The elevated uric acid and hepatomegaly would also lead to that diagnosis.
Additional tests: triglycerides, lipids, cbc, gamma glutamyltranferase, ketone bodies, ultrasound liver & kidneys.
Treatment: to maintain normal glucose levels throughout the 24 hour day. Feedings every 3-4 hours with cornstarch, avoid
carbohydrates with galactose or fructose. Adequate protein and fats.
*Disclaimer: I am not a doctor and I do not play one on the internet. I am however, really enjoying the learning experience on air-clinic!
Definitely a glycogen storage disease. Your diagnosis is very appropriate for the presentation. If we are to go with this 'tentative ' diagnosis, what other disorders would the child face apart from hypoglycemia and how would you manage them?
And why do u keep giving this disclaimer? What is your career specialty ? #just curious 😋 @tamala
@antigenx I'm a health coach with an insatiable interest in medicine. Is it ok if I still participate?
@tamala im impressed, you are doing very well my dear. #kudos.
I value your inputs....😎