> Fun ways to get fit

> Training for success

> Smokers get their way

> SA tests HIV concoction

> Stem cell awareness

> Safeguard your heart

> Saying sorry works

> Time to detox...

> Smoke-free cigarettes

> Swine flu not mutating

Today, 09 February 2010

› Strike three, Mr President

› Cooked head discovered

› Zuma apology 'unwelcome'

› 'Illegal' traps blasted

› Madiba to grace Parliament

Yesterday, 08 February 2010

› No credit to FW - Zuma

› Zapiro revives showerhead

› 'Our president has failed'

› Praise for Amla

› 'Zuma should be forgiven'

Question

Our little girl is autistic and has recently been diagnosed as having hyperammonemia. We have only been given a very basic description of what this is and told not to feed her any protein. Please can you give us some more information?

Answer

This is a highly specialised subject and one of the first things you must do is go back to your specialist and insist on more information, full counselling as to the consequences of this for any more children you wish to have, and a detailed consultation with a dietician to discuss your daughter's diet. You should also ask whether your daugter's original diagnosis of autism is correct in the light of this new diagnosis.

Hyperammonemia types I, IA and II are only three of several defects in amino acid catabolism (manufacture). The most common of these, which you may have heard of, is phenylketonuria.

In hyperammonemia type I, the amino acid affected is carbamylphosphate and the defective enzyme is carbamylphosphatase synthetase I. The condition is inherited as a recessive gene through both the mother and the father.

Hyperammonemia type IA describes a defect in the enzyme N-acetylglutamate synthetase which affects the amino acid N-acetylglutamate. This is inherited only through the mother, so-called X-linked inheritance.

Hyperammonemia type II describes a defect in the enzyme ornithine transcarbamylase, which affects the amino-acid ornithine. It is inherited as a recessive gene through either the mother or the father.

In both cases affected children are often mentally retarded, they have neuropsychiatric dysfunction, protein intolerance and are subject to a build up of ammonia in the body which can have deletarious effects. This build up of ammonia can be prevented by restricting protein in the diet.All the above substances are involved in the metabolism of urea in the body. Eating protein results in production of urea.

You also need to find our exactly which type of hyperammonemia your daughter has, since each type is inherited differently.

MORE GENETIC ILLNESS Q&A'S
[an error occurred while processing this directive]