Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland. [PDF]
J Inherit Metab DisABSTRACT Arginase 1 deficiency (ARG1‐D) is an ultra‐rare urea cycle disorder characterized by progressive spastic paraplegia, developmental delay, epilepsy, and episodic hyperammonemia. Evidence on prevalence and clinical presentation is scarce. Therefore, epidemiology and the phenotypical spectrum were assessed in Germany, Austria, and Switzerland ...
Scharre S +19 more
europepmc +2 more sources
A case of hyperammonemia occurring during treatment of metastatic renal cell carcinoma with axitinib
IJU Case Reports, 2023 Introduction Although the incidence of hyperammonemia as an adverse event of tyrosine kinase inhibitors is quite low, several cases of tyrosine kinase inhibitor associated hyperammonemia have been reported.
Shoichi Kimura +6 more
doaj +1 more source
Multiple Asparaginase Infusions Cause Increasingly Severe Acute Hyperammonemia
Medical Sciences, 2022 Adverse reactions during and shortly after infusing asparaginase for the treatment of acute lymphoblastic leukemia can increase in severity with later doses, limiting further use and increasing relapse risk.
Randal K Buddington +2 more
doaj +1 more source
Hematology, 2023 Hyperammonemia is a rare and often fatal complication following the conditioning therapy in autologous and allogeneic stem cell transplant recipients. It is characterized by anorexia, vomiting, lethargy and coma without any other apparent cause.
Galina Tsykunova +6 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2020 Hyperammonemia is a typical symptom of urea cycle disorders. While early-onset argininosuccinic aciduria (ASA) can often be detected by hyperammonemia, patients with late-onset ASA predominantly present with psychomotor retardation and mental disorders ...
Yoshimitsu Osawa +4 more
doaj +1 more source
Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias
Molecular Genetics and Metabolism Reports, 2021 Background: Classic organic acidurias (OAs) usually characterized by recurrent episodes of acidemia, ketonuria, and hyperammonemia leading to coma and even death if left untreated.
Ertugrul Kiykim +5 more
doaj +1 more source
Fatal Idiopathic Hyperammonemia after Induction Chemotherapy for Acute Myeloid Leukemia
Case Reports in Hematology, 2020 Idiopathic hyperammonemia is a rare but potentially fatal complication occurring in patients with acute leukemia or bone marrow transplantation. The role of some specific anticancer drugs may be discussed, but the etiology of hyperammonemia is often ...
Christophe Angelo +5 more
doaj +1 more source
Methamphetamine-induced encephalopathy in the absence of hyperammonemia
BMC Psychiatry, 2023 Background Methamphetamine is an addictive drug with various effects on the neurotransmitters in the central nervous system. Methamphetamine-induced encephalopathy in the absence of hyperammonemia presents a unique challenge in a clinical setting ...
Jessica M Rabbany +4 more
doaj +1 more source
Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis-Like Features: A Case Report and Literature Review. [PDF]
Clin Case RepABSTRACT Multiple carboxylase deficiency (MCD) is a rare, treatable inborn error of biotin metabolism that may present in children in the first year of life with life‐threatening metabolic crises. We report a 4‐month‐old child presenting with persistent seizures, eczematous rash near the orifices, unjustified loss of hair with baldness, and severe ...
Rehman T +8 more
europepmc +2 more sources
AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury
, 2022 Hepatology, EarlyView.
Robert J. Fontana +6 more
wiley +1 more source