PKU.com Community Discussion Forum Parent support problem with Doctors Reply To: problem with Doctors

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sailuchakri
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 Himaja  aged 3 years and 6 months has been suffering from a disease called PKU (Phenylketonuria) which blocks the growth of the brain.n

Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine.

 

When at the age of 1 year, she was not all behaving like a normal child, we visited our local doctor near our suburbs in INDIA and he suggested that calcium was so low and give calcium related food so that she can attain the growth, the mistake we had was that we had given only the calcium related food which totally blocks all other minerals and proteins and made a thick layer in the brain.

 

At 18 months, some one had suggested us to go to Madras hospital  which belongs to INDIAN Railways, after 4 months of course of medicines, the doctors suggested us to go to one of the premier institute in India called National Institute of Mental health and Neuro Sciences popularly called as NIMHANS( one of the premier institute in INDIA in R & D).

 

It is at almost at 23rd month of the child, we visited NIMHANS and we came to know that the brain stops growing at the 24th month. But they insisted that with low protein diet they can get some good results.

 

Since then we are using low protein diet and there has been a slow and steady improvement we are able to see in the child.

 

The low protein diet is to control the increasing dose of Phenalyannine, but we are able to control the increasing levels of  Phenalyannine which stands around > 1500 mg( normally to be below 100 mg in a normal child).

 

This low protein diet should convert the   Phenalyannine into Tyrosine, but in this case it is not at all reducing.

 

I'm unable to find a good diagnosis for the child….please help me

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