Select a specific condition below to view its details.
- Argininosuccinic aciduria
Argininosuccinic aciduria (ASA) is a rare inherited disorder that causes elevated blood ammonia levels.If ammonia buildup in the blood is not detected and treated promptly, it can cause brain damage and even death.It is caused by changes (mutations) in the ASL gene that result in a deficiency.ASL (argininosuccinate lyase) is an enzyme that breaks down and eliminates nitrogen from the body. Read More
- Cysticercosis (pork tapeworm infection)
Taenia Solium or cysticercosis (pork tapeworm infection) is an intestinal infection with adult tapeworms that follows ingestion of contaminated pork. The condition Cysticercosis is a parasitic tissue infection caused by larval cysts of the tapeworm Taenia soliumDiagnosis:Stools are examined under microscope for ova and proglottids.CT and/or MRI and serologic testing for patients with central ne Read More
- Urea cycle disorder, arginino succinase ...
Urea Cycle Disorder (UCD) affects about 1 in 35,000 newborns.Currently, there is no clarity regarding the exact incidence of these disorders. Many infants born with these defects die without a clear diagnosis or many cases are not diagnosed. According to researchers, urea cycle disorders in newborns are 1 in 10,000 as of April 2000. This indicates a marked increase in the identificatio Read More
Valinemia is a rare metabolic disease marked by unusually elevated amounts of the amino acid valine in the urine and blood.Infants with valinemia are said to have a poor appetite, puking, and fail to thrive. In rare situations, the condition is potentially fatal.There have also been reports of low muscular tone (hypotonia), excessive sleepiness, hyperactivity, and developmental delay.Valinemia is Read More