Biochemical Disorders
Some metabolic diseases
There are some metabolic diseases we can do something about: PKU and a low phenylalanine, low-protein diets. You give them just enough proteins so that these patients can grow. Homocystinuria: we used to decrease their protein restriction a little bit but now betaine has sort of taken care of all of that, and we usually [...]
How do we treat urea cycle disorders
How do we treat urea cycle disorders, without going through all five of them? Three key points. First of all, we need to prevent protein catabolism because these infants, if they don’t get enough calories they break down their own muscle protein, and in the process of doing that generate more ammonia. That’s the last [...]
So let’s look at the common tests
So let’s look at the common tests because you may have some clues there as to what might be going on. For example, you can look at a CBC. If the child has neutropenia or thrombocytopenia this might be a clue that the child has methylmalonic aciduria, or propionic aciduria. If the child is spilling [...]
Homocystinuria. New Treatments for Biochemical Disorders
Homocystinuria is very uncommon, compared to PKU, and the screening test in those states that do it is not to measure homocystine, because it’s a little difficult – because it’s an unstable compound – they actually measure methionine. The diagnostic test is to do a complete plasma amino acid profile. I’ll stress again, nobody gets [...]
Biochemical Disorders
Biochemical disorders are caused by genetically determined defects, usually in an enzyme, although sometimes they are in receptors or other parts of the pathway. Unfortunately sometimes the body makes toxic substances. In the case of PKU, the body makes phenylactate and phenylpyruvate, which are neurotoxins. So it has decreased phenylalanine a little bit but it [...]
