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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Suggest Treatment For Under Weight And Growth Problem

my son is 14 and a half years old, 5feet 8 inches tall and if very underweight at 45kg. Private urine tests indicate high lelvels of Formiminoglutamic acid (27.5). The urine analysis also indicates high levels of B-OH- Butyric acid (14.6). He also has a low white blood cell count.(4.1) My GP will not accept these results andGP says low white blood count does not mean anything, does not indicate anything is wrong The routine blood test from the GP did not show any vitamin B defficiency. My son is seriously thin even though he has a good diet with frequent snacks in between.
He also has tourettes syndrome but is not on medication. Please help and advice as I am getting desperate trying to get the GP to at least recognise the urine analysis from Geneva Diagnostics Europe. Meanwhile my son is literally wasting away
Mon, 9 Mar 2015
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Internal Medicine Specialist,  's  Response
At this point I would suggest you get him a second opinion with an internist or pediatrician. The formiminoglutamic acid level could indicate a vitamin B9 (folate) deficiency. This could affect the development of both red and white blood cells. The elevated butyric acid levels suggest ketosis, which is seen with uncontrolled diabetes, starvation, and other significant conditions. The weight loss suggests a serious condition that needs to be diagnosed. He might have some metabolic condition that is affecting his weight and growth by creating a condition of starvation by being unable to digest or metabolize food properly. It is unclear why your GP does not "accept" these results. Certainly he could repeat them if he is not confident of the laboratory where you obtained them. But the fact that your son is "wasting away" suggests a serious problem that should be evaluated promptly. Get a second opinion from a specialist, either a pediatrican experienced in "failure to thrive" conditions or an internist. Hope this helps.
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Suggest Treatment For Under Weight And Growth Problem

At this point I would suggest you get him a second opinion with an internist or pediatrician. The formiminoglutamic acid level could indicate a vitamin B9 (folate) deficiency. This could affect the development of both red and white blood cells. The elevated butyric acid levels suggest ketosis, which is seen with uncontrolled diabetes, starvation, and other significant conditions. The weight loss suggests a serious condition that needs to be diagnosed. He might have some metabolic condition that is affecting his weight and growth by creating a condition of starvation by being unable to digest or metabolize food properly. It is unclear why your GP does not accept these results. Certainly he could repeat them if he is not confident of the laboratory where you obtained them. But the fact that your son is wasting away suggests a serious problem that should be evaluated promptly. Get a second opinion from a specialist, either a pediatrican experienced in failure to thrive conditions or an internist. Hope this helps.