ALLMedicine™ Argininosuccinic Aciduria Center

Sep 22nd, 2022 - Urea cycle disorders (UCD) are a group of genetic diseases caused by deficiencies in the enzymes and transporters involved in the urea cycle. The impairment of the cycle results in ammonia accumulation, leading to neurological dysfunctions and poo...

Aug 9th, 2022 - Argininosuccinate lyase deficiency (ASLD; also known as argininosuccinic aciduria) is the second most common urea cycle disorder (UCD) and accounts for 15-20% of all disorders of ureagenesis. Individuals with ASLD can have unique clinical and phys...

Jun 1st, 2021 - Liver transplantation (LT) for children with urea cycle disorders (UCDs) is capable of correcting the enzymatic defect and preventing progressive neurologic injury. We describe the characteristics and outcomes of pediatric LT recipients with UCDs....

Jan 18th, 2020 - The investigators will perform a double blind, randomized, placebo-controlled, crossover study of NO supplementation in ASA patients assessing endothelial function and blood pressure as primary endpoints, and markers of nitric oxide production as ...

May 6th, 2019 - No data are available on the specific energy needs of patients affected with Urea Cycle disorders (UCD) and especially argininosuccinic aciduria (ASA). In our experience, ASA patients tend to develop central adiposity and hypertriglyceridemia when...

Aug 9th, 2022 - Argininosuccinate lyase deficiency (ASLD; also known as argininosuccinic aciduria) is the second most common urea cycle disorder (UCD) and accounts for 15-20% of all disorders of ureagenesis. Individuals with ASLD can have unique clinical and phys...

Jan 18th, 2020 - The investigators will perform a double blind, randomized, placebo-controlled, crossover study of NO supplementation in ASA patients assessing endothelial function and blood pressure as primary endpoints, and markers of nitric oxide production as ...

Jan 31st, 2018 - The cause of liver damage in people with ASA is unknown. However, because ASA is the only urea cycle disorder that is characterized by both liver damage and elevated levels of argininosuccinic acid, researchers believe that the elevated acid level...

Jun 24th, 2005 - PROTOCOL OUTLINE: This protocol describes several clinical studies of pharmacologic and dietary management in patients with urea cycle disorders. Patients with carbamyl phosphate synthetase and ornithine transcarbamylase deficiency are treated wit...

Mar 5th, 2015 - To the Editor: First identified by Samuel Wilks in 1852, trichorrhexis nodosa (TN) is a congenital or acquired hair shaft disorder that is characterized by fragile and easily broken hair. 1 Congenital TN is rare and can occur in syndromes such as p.

Apr 27th, 2012 - Action Points Nitric oxide supplements were able to rein in treatment-resistant hypertension in a patient with argininosuccinic aciduria (ASA), one of the most common urea-cycle disorders. Note that ASA is a congenital disorder that renders patien...