INTRODUCTION Ornithine transcarbamylase deficiency is the most common hereditary urea cycle defect. It is inherited in an X-linked manner and classically presents in neonates with encephalopathy and hyperammonemia in males. Females and males with hypomorphic mutations present later, sometimes in adulthood, with episodes that are frequently fatal. CASE PRESENTATION A 13-year-old Caucasian girl...

BACKGROUND A patient with an early diagnosed epilepsy Valproic acid is one of the most widely used antiepileptic drugs. Hyperammonemic encephalopathy is a rare, but potentially fatal, adverse drug reaction to valproic acid. CASE DESCRIPTION A patient with an early diagnosed epilepsy, treated with valproic acid, experienced an altered mental state after 10 days of treatment. Valproic acid seru...

Valproate (VPA)-induced hyperammonemic encephalopathy is an unusual, but serious, adverse effect of divalproex sodium (DVPX) treatment and if untreated can lead to raised intracranial pressure, seizures, coma, and eventually death. It can, however, be reversed if an early diagnosis is made. It is therefore extremely important to recognize it and discontinue DVPX treatment. Our patient developed...

Acute hyperammonemia is a medical emergency requiring rapid recognition and treatment to prevent devastating neurologic sequelae. Its varying etiologies include primary hepatic failure, drug toxicity, infection, and inherited disorders of metabolism. Ornithine transcarbamylase (OTC) deficiency is the most common inherited urea cycle disorder and can result in hyperammonemic encephalopathy and c...

Ornithine transcarbamylase (OTC) deficiency is an X-linked urea cycle defect. While hemizygous males typically present with hyperammonemic coma in infancy, reports of rare late-onset presentations exist, with poor outcomes in males up to 58 years old. Relatives with mutations identical to affected patients often remain asymptomatic, and it is likely that environmental and genetic factors influe...