ALLMedicine™ Argininosuccinic Aciduria Center

Aug 19th, 2021 - 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...

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...

Apr 10th, 2019 - Liver transplant (LT) is a therapeutic option for a growing number of inborn errors of metabolism (IEM), including some disorders not confined to the liver. Clinical advantages of LT in maple syrup urine disease (MSUD), methylmalonic acidemia (MMA...

Feb 7th, 2019 - The first patients affected by argininosuccinic aciduria (ASA) were reported 60 years ago. The clinical presentation was initially described as similar to other urea cycle defects, but increasing evidence has shown overtime an atypical systemic ph...

Jan 7th, 2019 - Background Argininosuccinate (ASA) lyase deficiency results in defective cleavage of ASA. This leads to an accumulation of ASA in cells and an excessive excretion of ASA in urine. In virtually all respects, this disorder shares the characteristics...

Aug 19th, 2021 - 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...

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...