The urea cycle is a metabolic pathway for the disposal of excess nitrogen, which arises
primarily as ammonia. Nitrogen is essential for growth and life-maintenance, but excessive …

Urea cycle defects (UCDs) are severe inherited metabolic diseases with high unmet needs
which present a permanent risk of hyperammonaemic decompensation and subsequent …

The urea cycle enzyme argininosuccinate lyase (ASL) enables the clearance of neurotoxic
ammonia and the biosynthesis of arginine. Patients with ASL deficiency present with …

The urea cycle is a liver-based pathway enabling disposal of nitrogen waste. Urea cycle
disorders (UCDs) are inherited metabolic diseases caused by deficiency of enzymes or …

Maple syrup urine disease (MSUD) is a rare recessively inherited metabolic disorder
causing accumulation of branched chain amino acids leading to neonatal death, if …

Maple syrup urine disease (MSUD) is rare autosomal recessive metabolic disorder caused
by the dysfunction of the mitochondrial branched‐chain 2‐ketoacid dehydrogenase (BCKD) …

Abstract The Urea Cycle Disorders Consortium (UCDC) and the European registry and
network for Intoxication type Metabolic Diseases (E‐IMD) are the worldwide largest …

Argininosuccinate lyase (ASL) is essential for the NO-dependent regulation of tyrosine
hydroxylase (TH) and thus for catecholamine production. Using a conditional mouse model …

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 …

Argininosuccinic aciduria (ASA) is a metabolic disorder caused by a deficiency in
argininosuccinate lyase (ASL), which cleaves argininosuccinic acid to arginine and fumarate …