Published in Archivos argentinos de pediatria
Los trastornos del ciclo de la urea (TCU) son enfermedades hereditarias con un posible desenlace desfavorable por hiperamoniemia grave. Se informa de una bebé con deficiencia de N-acetilglutamato sintasa (NAGS), quien tenía succión débil e hipotonicidad. Al examinarla, se observó hepatomegalia. El hemograma, los análisis y la gasometría eran normal...
Published in Child Neurology Open
This case report describes 2 siblings with myoclonic epilepsy who had novel mutations in the glutamine synthetase ( GLUL ) gene: c.316C>T, p.(Arg106*) and c.42G>C, p.(Lys14Asn). Valproic acid improved seizure control, but was associated with hyperammonemic encephalopathy. Addition of carglumic acid reduced ammonia levels but drug coverage was decli...
Published in Brain Sciences
Asymptomatic valproic acid (VPA)-induced hyperammonemia in the absence of liver impairment is fairly common. However, the underlying mechanisms through which VPA causes elevation in plasma ammonia (NH4) remains under investigation. Male Sprague Dawley rats ( n = 72) were randomly allocated to receive VPA 400 mg/kg, 200 mg/kg, or vehicle IP daily fo...
Published in Expert opinion on drug delivery
Therapeutic enzymes are currently used in the treatment of several diseases. In most cases the benefits are limited due to a poor in vivo stability, immunogenicity and drug-induced inactivating antibodies. A partial solution to the problem is obtained by masking the therapeutic protein by chemical modifications. Unfortunately, this is not a satisfa...
Published in Cureus
Hyperammonemia is a metabolic abnormality characterized by elevated levels of ammonia in the blood. This case report illustrates a 72-year-old Caucasian female with a history of prior gastric bypass surgery done 15 years ago, who was admitted multiple times for acute encephalopathy over the course of a few months. The patient was found to have a ga...
Published in Journal of Pediatric Endocrinology and Metabolism
Objectives Carbonic anhydrase VA (CAVA) deficiency is a rare autosomal recessive inborn error of metabolism that leads to acute metabolic crises, especially in the neonatal or infantile period. It is caused by a deficiency of the enzyme CAVA, which is encoded by the CA5A gene. Case presentation Fifteen patients with homozygous pathogenic CA5A mutat...
Published in International Journal of Molecular Sciences
Liver cirrhosis is frequently accompanied by disease-related malnutrition (DRM) and sarcopenia, defined as loss of skeletal muscle mass and function. DRM and sarcopenia often coexist in cirrhotic patients and are associated with increased morbidity and mortality. The clinical manifestation of both comorbidities are triggered by multifactorial mecha...
Published in Journal of Clinical Medicine
Background: The relationship between liver disease and neuropathology in hepatic encephalopathy is well known, but the genesis of encephalopathy in liver failure is yet to be elucidated. Conceptually, the main cause of hepatic encephalopathy is the accumulation of brain ammonia due to impaired liver detoxification function or occurrence of portosys...
Published in Paediatric anaesthesia
Urea cycle disorders are congenital metabolism errors that affect ammonia elimination. Clinical signs and prognosis are strongly influenced by peak ammonia levels. Numerous triggers associated with metabolic decompensation have been described with many of them, including fasting or stress, being related to the perioperative period. We aimed to asse...
Published in Cureus
This report describes a unique case of recurrent transient hyperammonemia (THA) following a first-time occurrence of generalized tonic-clonic seizure in a young adult, who went on to develop post-stroke epilepsy. Although this phenomenon has been described in recent literature, we report not only the highest initial ammonia level to date, 549 µmol/...
