View Main Condition: Urea Cycle Disorders (UCD)
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
Mutations in the ASL gene cause argininosuccinic aciduria. This condition belongs to a class of genetic diseases called urea cycle disorders because they are caused by problems with a process in the body called the urea cycle. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle breaks down excess nitrogen, which is made when protein is used by the body, to make a compound called urea. Urea is removed from the body in urine. Breaking down excess nitrogen and excreting it as urea prevents it from accumulating in the body as ammonia.
Argininosuccinic aciduria occurs in approximately 1 in 70,000 to 218,000 newborns. Most cases of this condition are detected shortly after birth by newborn screening.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Julien Baruteau practices in London, United Kingdom. Baruteau is rated as an Elite expert by MediFind in the treatment of Argininosuccinic Aciduria. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are Argininosuccinic Aciduria, Urea Cycle Disorders (UCD), Neonatal Hemochromatosis, Ornithine Transcarbamylase Deficiency, and Liver Transplant.
Oleg Shchelochkov is a Pediatrics specialist and a Medical Genetics expert in Iowa City, Iowa. Shchelochkov has been practicing medicine for over 26 years and is rated as an Elite expert by MediFind in the treatment of Argininosuccinic Aciduria. He is also highly rated in 7 other conditions, according to our data. His top areas of expertise are Argininosuccinic Aciduria, Propionic Acidemia, Urea Cycle Disorders (UCD), and Methylmalonic Acidemia.
Simon Waddington practices in Johannesburg, South Africa. Waddington is rated as an Elite expert by MediFind in the treatment of Argininosuccinic Aciduria. He is also highly rated in 7 other conditions, according to our data. His top areas of expertise are Argininosuccinic Aciduria, Urea Cycle Disorders (UCD), Gaucher Disease, and Niemann-Pick Disease.
Summary: In proximal urea cycle disorders (UCD), particularly ornithine transcarbamylase deficiency (OTCD), hyperammonemia (HA) causes increased brain glutamine (Gln) which perturbation is thought to be at the core of the neurological injury. In contrast, in distal UCD such as citrullinemia (argininosuccinate synthetase deficiency; (ASSD) and argininosuccinic aciduria (argininosuccinate lyase deficiency); ...
Summary: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...
Published Date: March 01, 2020Published By: National Institutes of Health