Hi,
Well you seemed to be very informative r u a medical practicioner by any chance. After reading yor response, I thought i can check with you on an issue. would like to discuss with you my son's health condiditon.
My son was born on 11th Jan 2006, at Manipal Hospital, Bangalore, following are his details :

Pediatrician – Karthik Nagesh ( Neonatal specialist)
Time : 6.11 Pm
Sex – Male
Mode of delivery – NVD

Birthh Details
Apgar Score- 1 min – 8/10
5 min – 9/10
Gestational age – 38 weeks and 6 days
Birth weight – 2.98
Head Circum – 33.5
Length – 51 cms
Baby check – all normal
Neonatal Morbidity ( Neonatal hyperbilirubinemia )
Investigations : 14/01 – TB 15.3 mg/dl, DB - .3mg/dl, Blood group – B positive
15/01 – DB - 0.2 mg/dl, TB – 13.3 mg.dl
16/01 – DB – 0.3 mg.dl, TB – 12.3 mg/dl
On discharge he was on good condition.

But my happiness was not lasted for a longer time,

My baby was apparently well till 11th day of life ( 21st Jan ), baby developed multifocal abnormal movements of hands and legs Baby was not administered any medications 2nd episode of seizures occurred on 25th January, baby was shown to a local pediatrician who started calcium syp but hypocalcemia was not documented. 3rd episode occurred on 3/2 for whoch baby was brought for further management. Though septic workup and seizure workup was done reported as normall, baby was started on syp gardenal, EEG reports were done. Baby had high ammonia and lactate for which sodium Benzoate was started. In the ward EEG was done showing normal background with multifocal sharp form. So the hospital has planned to continue oral phenobarbitone. CTscan( brain) was done normal. Blood C/S & CSF C/S were negative so IV antbiotics were stopped after 5 days. In view of Hyperammonemia sodium benzoate continued. S. Phenobarbitone level was done 17.2. baby is hemodynamically stable, taking drect breast feeds well and is being discharge

Following investigations were done 23rd day of life
RBS – 68mg/dl
Calcium – Total – 10.0 mg/dl, calcium – ionized – 4.7 mg/dl
Magnesium – 2.0 mg/dl
EEG – Normal background with multifocal sharp forms
Cranial ultrasound – normal study
CSF – nprmal
Ammonia – 119.8 mg.dl, lactate – 36.9 mg/dl
Cranial ultrasound – normal study
CT scan ( brain ) – normal
Suscpect Sepsis
Baby’s septic screen showed CRP negative and blood CS grew no growth. Child was started on Piptaz and Netilmycin

Lab investigations :
(3/2) Blood C/S – No growth after 48 hrs of incubation
(3/2)CRP – negative
(3/2) TC – 9650/cumm, HB – 12.3 g/dl
His pediatric suggested us that we go for his blood check on April 10th and having his blood examined, his ammonia and lactate levels came down to 95 and 19 respectively. On this diagnose doctor advised that we reduce his sodium benzoate dose from 290 mg to 150 mg and gardenal to be increased from 2.5 ml to 2.7 as his weight increased ( 5.7 – current weight) and asked his to repeat his blood test after 10 days. And also doctors diagnosed the baby is little stiff and asked us meet physiotherapist, and having him diagnosed, he said the baby is neurological fine – gross motor skills are in pace with normal child and fine motor skills are also normal. But he said below his left thigh the muscle is slightly stiff. He advised us some stretching exercise and sensory exercise for the baby

On 19th April I started to introduce him to formula ( Dulac – as he has constipation problem – as advised by the doctor ) one feed in a day, as I was asked to resume back to work. On 21st I had blood test repeated and to our shock ammonia has shot up to 109 and lactate has remained normal.
We again increased his dose from 150 - 290 mg and his ped suggested we better stop pricking the baby every week and advised we do after 6 months. June we had his EEG and BARE ( hearing and nerve development ) done at manipal. By gods grace his EEG had no traces of seizures and hearing was also normal. Now matteo has finished 6 months and we might be doing his ammonia test and actually i am missing his heart beat evertime when they ask me to do a test. we have stopped gardenal ( phenobarbitone ) and currently he is on sodium Benzoate 290 mg thrice and mega vitamins. Last week he was down with measles but has recovered now. Actually i was hunting for sodium benzoate from US but the composition there is with phenyllacetate, where i require only sodium B. Can pls advice if i am right track of treament. What is the cause for inborm metabolic error ( as my pregnany i did not have any trouble at all)
and jus pray that he gets well soon.

thanks
Usha Hetal replied. hello !
my main subject of study is food & nutrition and child psychology & behaviour. it all includes,growth & development of baby & prenatal,postnatal care,and infant care & some social issues related to environment where the child is broughtup,,and we are taught some aspects of pediatrics & gynac & allowed to attend studies or research related to these aspects.since this is not our main subject, we are not allowed to do go indepth of it.

however,your problem is totally related to neurology & emergency medicine of infants, my answer to this post might not be satisfying to you !

but this is what i know about hyperammonemia and as to how about the causes of inborn metabolic error. i tried to dig out the medications as well. but my reply to this post might not be exact,,just lettting you know in advance.now this how is caused and how it effects.

Ammonia is a normal constituent of all body fluids. At physiologic pH, it exists mainly as ammonium ion. Reference serum levels are less than 35 mmol/L. Excess ammonia is excreted as urea, which is synthesized in the liver through the urea cycle. Sources of ammonia include bacterial hydrolysis of urea and other nitrogenous compounds in the intestine, the purine-nucleotide cycle and amino acid transamination in skeletal muscle, and other metabolic processes in the kidneys and liver.
Increased entry of ammonia to the brain is a primary cause of neurological disorders associated with hyperammonemia, such as congenital deficiencies of urea cycle enzymes, hepatic encephalopathies, Reye syndrome, several other metabolic disorders, and some toxic encephalopathies.Ammonia is a product of the metabolism of proteins and other compounds, and it is required for the synthesis of essential cellular compounds. However, a 5- to 10-fold increase in ammonia in the blood induces toxic effects in most animal species, with alterations in the function of the central nervous system.Acute ammonia intoxication in an animal model leads to increased extracellular concentration of glutamate in the brain and results in activation of the N-methyl D-aspartate (NMDA) receptor. Activation of this receptor mediates ATP depletion and ammonia toxicity; blocking the NMDA receptor with dizocilpine (MK-801) prevents both phenomena. The ATP depletion is due to activation of Na+/K+-ATPase, which, in turn, is a consequence of decreased phosphorylation by protein kinase C. Activation of the NMDA receptor is probably the cause of seizures in acute hyperammonemia. which was seen in your son case, after few days of birth !
now the seizure was reported as normal in your case, and so was not leading to any condition of chronic hyperammonemia or leading to coma or intellectual impairment.these disorders are observed in all the races, and depending on the sex of the person the frequency of this disorder is decided. all the urea cycle disorders are inherited in an autosomal recessive pattern except OTC (ornithine transcarbamoylase) deficiency,,which is inherited as an X-LINKED trait.however, female carrier of OTC gene can become symptomatic.
so,you might want to check with Geneticist for possible testing of family members and to provide genetic counseling.in case if there is any possibility as how it started in your son metabolism and whther or not any of you has it or not.
however, in your case,as of now and by watever details you provided, its the case of early onset hyperammonemia present in the neonatal period.just like to mentioned, it happens,,baby is usually well for first 2-3 days, as the ammonia level rises, the baby becomes symptomatic showing seizures, or grunting respiration or hyperventilation.
gardenal (phenobarbitone) is generally used for treatments of epileptic seizures (fits or rather blackouts). these happen when an abnormal electrical discharge, like a short circuit causing a spark, occurs in the brain.now called Phenobarbital(was phenobarbitone before) makes these discharges less likely to happen by slowing or sedating some parts of the brain. This helps prevent the epileptic seizures.
also want to add that fits have many forms on of which is stiffness in arms or legs,.
in your case, baby goes stiff with a muscle in his thigh, resulting to jerk without any change in consciouness of the child or out of control of child.
so until that point everything looks ok to me !
now the sodium benzoate medication.The medical management of urea cycle disorders used to be limited to dietary modifications, which were not sufficient in many patients. Introduction of compounds that promote alternate pathways for nitrogen excretion was a big breakthrough. As nitrogen is converted to compounds other than urea, the load on the urea cycle is reduced.so the agents that treat the urea cycle disorders are sodium benzoate, sodium phenylacetate, and sodium phenylbutyrate.These drugs lower blood ammonia concentrations by conjugation reactions involving acylation of amino acids. Sodium phenylbutyrate is a prodrug and is metabolized to phenylacetate. Phenylacetate then conjugates with glutamine to form phenylacetylglutamine, which is then excreted by the kidneys.
mostly in US, the combination of Sodium benzoate and sodium phenylacetate is used to treat a condition caused by too much ammonia in the blood (hyperammonemia). wherein the dosage of phenylacetate is very nominal or depending on patients ammonia levels.
Sodium benzoate lowers serum ammonia concentrations by the activation of a non-urea cycle pathway of ammonia removal. The disposition of sodium benzoate was monitored in four hyperammonemic newborn infants, using a simple and newly developed assay for benzoate and hippurate, to assess (1) the metabolic capability of patients of this age to utilize this pathway for nitrogen removal, (2) the potential risks of benzoate toxicity at clinically achieved serum benzoate concentrations, and (3) the value of routine monitoring of serum benzoate concentrations in this patient population. In three of the four infants, more than half of the administered benzoate was converted to hippurate.Hippurate was effectively cleared by the neonatal kidney, although removal of unconjugated benzoate by peritoneal dialysis or urinary excretion was slow compared with the metabolic conversion to hippurate. There was a considerable interpatient variability in benzoate metabolism; consequently, an eight-fold range in serum benzoate concentrations (2.14 to 16.0 mM/L) was found after patients had received benzoate for longer than 24 hours. These serum benzoate concentrations were calculated to be capable of producing substantial (four to 25 times) increases in free bilirubin concentrations in jaundiced infants. Although sodium benzoate offers considerable promise for the treatment of hyperammonemia, toxicity appears likely in some infants receiving this drug in currently recommended doses. Monitoring of serum concentrations appears to be warranted.
so as of now, this also looks satisfying to me but your dr may go for a futher blood test to check whther or not your baby has shown any signs of toxication.i am not tryin to scare you, but this is what all i could be able to dig the matter...other than all this, is out my reach.

as far as the dr name and hospital is concerned, they are well trusted and not to doubt for !

also, if even 1 % of doubt arises in your mind about treatment not being on the proper track,there is one more trusted hospital in bangalore, to my knowledge is Malviya hosptial.

but as far as things are going fine with your son and you are able to control his situation on time, continuing the same medication is desirable rather than trying new medications ! however, there is nothing wrong in taking a second opinion to make sure that you are on right track, from other specilist,,if he too guides you to same results,then you are right track,,,just go and consult,,if the things are same and medication are more or less same,just dont change the current medication,,hope you got the point on what i m trying to say.

so,this is all in know about Hyperammonemia,,since i am not an experienced person like your dr, i would like to personally tell you that my all this information might not be in depth..and personally i am yet to work on critical abnormalities and emergency medicine,,its far off from my actual study line,,,its out of curiousity i was further inclined to dig this whole thing from various sources,books and couple profs of the neurology...and now more info on this is out of my reach :(,,sorry about that.

also, in case, any where i was not able to help you by any means, please consider that this was my effort and not my reply depending on experience or my actual studies.

so good luck and take care,,,my best wishes for you & love to your lil one.
Regards