Dual Urea Cycle Dysfunction Caused by Coexisting Argininosuccinic Aciduria and Citrin Deficiency: Clinical, Biochemical, and Molecular Insights From an Exceptional Case. [PDF]
JIMD RepABSTRACT Dual inherited defects affecting urea cycle function are exceptionally rare. We report the first case, to our knowledge, of the coexistence of argininosuccinic aciduria (ASA) and citrin deficiency (CD). A girl born to consanguineous Tunisian parents presented at 6 months of age with recurrent seizures, vomiting, developmental delay, and severe
Zribi M +6 more
europepmc +2 more sources
Biochemical testing and pathology reveal rare cause of pediatric acute liver failure: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. [PDF]
JPGN RepAbstract Hyperornithinemia‐hyperammonemia‐homocitrullinuria (HHH) syndrome is a rare metabolic condition that can cause lethargy, ataxia, tachypnea, nausea, vomiting, seizures, coma, and acute liver failure. We present a 26‐month‐old female with acute liver failure who was diagnosed with HHH 1 week after admission. Histology revealed an acute hepatitic
Mosher TL +6 more
europepmc +2 more sources
A Case of Severe Hyperammonemic Encephalopathy Caused by Urinary Tract Infection in Obstructive Uropathy [PDF]
Childhood Kidney Diseases, 2021 Hyperammonemia is mainly caused by diseases related to liver failure. However, there are also non-hepatic causes of hyperammonemia, such as urinary tract infection (UTI) due to urease-producing organisms.
Bo Gyung Mun +3 more
doaj +1 more source
Journal of Investigative Medicine High Impact Case Reports, 2022 Mycoplasma and Ureaplasma infections have been described as a cause of hyperammonemia syndrome leading to devastating neurological injury in the post-transplant period, most commonly in lung transplant recipients.
Steven M. Phillips DO +8 more
doaj +1 more source
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
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
AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury
, 2022 Hepatology, EarlyView.
Robert J. Fontana +6 more
wiley +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