Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.

Background: Urea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxification. In about half of patients presenting with a UCD, the first symptoms appear within a few days after birth. These neonatal onset patients generally have a severe defect of urea cycle function and their survival and outcome prognoses are often limited.

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.

Purpose: Four mitochondrial metabolic liver enzymes require bicarbonate, which is provided by the carbonic anhydrase isoforms VA (CAVA) and VB (CAVB). Defective hepatic bicarbonate production leads to a unique combination of biochemical findings: hyperammonemia, elevated lactate and ketone bodies, metabolic acidosis, hypoglycemia, and excretion of carboxylase substrates. This study aimed to test for CAVA or CAVB deficiencies in a group of 96 patients with early-onset hyperammonemia and to prove the disease-causing role of the CAVA variants found.

Sellar and parasellar lesions - clinical outcome in 61 children.

Objective: To evaluate clinical outcome in a 10-year consecutive series of children operated for sellar and parasellar tumors with special focus on neuropsychology and endocrinology.

Patients And Methods: We analyzed 61 children (30 female) under 18 years of age (mean age 9.9, range 1 month-17 years) operated between 2000 and 2010.