instruction: hi doctor I have a seven and half year old son he has metabolic genetic illnesses mcadd and not able to break down fats to produce energy so has to eat carbohydrates and drink on time to maintain his blood sugar levels as well he has chylomicron retention disease which is not being able to absorb fat and so he needs soluble vitamins such as vitamin and he needs a special low fat diet he also has developmental delays in all areas at that time I thought it was normal because his illness was not found out until he was nearly years old and had been failing to thrive before that he was under malnutrition I also have two other boys who also have developmental delay but not as severe as how my oldest one was consultant are saying now that maybe some genetic issues must be going on and put us all in the 100 genomes study research hoping to find some answers for the abnormal blood result of my seven and a half year old his ok levels have been persistently elevated his last reading was 155 ast to 70 units per liter and alt to 71 units per liter they are still investigating and hoping to find some answers his other blood were normal for thyearoid function glucose and lactate ammonia in plasma uric acid in plasma and renal functions all were fine due to persistent ok levels it is pointing more towards a myopathy I am very confused and yes he has been showing certain signs like he cannot walk too much with feet pain and on and off finger pains it seems to me that he is not a strong child for his age but seems fine other than that
output: hi this seems to be more of a genetic disorder unfortunately the genome sequence of your family needs to be done in order to find the fault however this is only from a diagnostic point of view it is not going to change the medical treatment for the children also the diet and supplements that you are giving for your child are to the best of my knowledge please continue the same unfortunately for developmental delay not much can be done you can try physiotherapy for the same along with all the other efforts that you are taking also please follow up urgently with your nearest hospital in the event of any abnormal behavior or convulsions in any of your children as I have not physically examined the child take care