The following Conditions are related to Developmental delay

Select a specific condition below to view its details.

  • Argininosuccinate lyase deficiency

    Argininosuccinate lyase (ASL) catalyzes the lysis of arginine succinate into fumarate and arginine. This reaction replenishes arginine that initiates the urea cycle. ASL deficiency thus reduces the concentration of arginine and slows down the fixation of nitrogen into urea.Symptoms of Argininosuccinate lyase DeficiencyNeonatal onset form is characterized by hyperammonemia within a few days after the bir  Read More

  • 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

  • Hyper-beta carnosinemia

    Hyper beta-carnosinemia is a rare inborn error in the metabolism of a dipeptide called carnosine that results in the accumulation of carnosine in muscle and brain tissues.Carnosine is formed of the amino acids alanine and histidine.The disease is confirmed with an amino-acid analysis of the blood.The affected individuals develop the symptoms of the disease within a year from birth.The def  Read More

  • Microvillus inclusion disease

    Microvillus inclusion disease is a genetic characteristic that is carried as an autosomal recessive trait. This implies that the disorder is transmitted by a gene on a chromosome that does not have a role in defining a person's gender.Both males and females can be infected, though it appears to affect females more frequently.Because this gene is recessive, both parents have it to pass the condition on  Read More