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Inborn error of metabolism
by Arafat19, Jun 07, 2008 06:40AM
Hi, my wife had delivered(LCLS) male twins 2 months back & the 1st baby died on 3rd day with multiple seizures & jaundice.
The 2nd baby was admitted to hospital by same day & there he spent almost 20 days in ICU , in suspect of inborn error of metabolism.The clinical details shows high ammonia level & low bicarbonate in his body. Although the baby
shows no physical symptoms till date but the medications have been started as precautionary term in order to avoid any sudden deaths.My son is taking oraly sodium benzoate (1200 Mg)+ Sodium bicarbonate(640 mg)+ Carnitine (2 ml) on a daily basis , which is very tough to feed.
Tandem Mass Spectroscopy done & found within normal limits.
GC/MS done which suspects Fatty Acid metabolism.
Although the doctors are unsure whether IEM persists or not , because India is not well facilitated with proper diagnostic centers which is moreover does not gives the assurance that their report are 100% true.
Currently my son has been discharged from hospital under strict medication advice. Doctor advice us to see after 2 months , & again they will repeat all the tests to check whether the child has the same problem or not.
Could anybody advice me that being clinically asymptomatic, my son may have chances of metabolic disorder in his body..?
The 2nd baby was admitted to hospital by same day & there he spent almost 20 days in ICU , in suspect of inborn error of metabolism.The clinical details shows high ammonia level & low bicarbonate in his body. Although the baby
shows no physical symptoms till date but the medications have been started as precautionary term in order to avoid any sudden deaths.My son is taking oraly sodium benzoate (1200 Mg)+ Sodium bicarbonate(640 mg)+ Carnitine (2 ml) on a daily basis , which is very tough to feed.
Tandem Mass Spectroscopy done & found within normal limits.
GC/MS done which suspects Fatty Acid metabolism.
Although the doctors are unsure whether IEM persists or not , because India is not well facilitated with proper diagnostic centers which is moreover does not gives the assurance that their report are 100% true.
Currently my son has been discharged from hospital under strict medication advice. Doctor advice us to see after 2 months , & again they will repeat all the tests to check whether the child has the same problem or not.
Could anybody advice me that being clinically asymptomatic, my son may have chances of metabolic disorder in his body..?
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