Undiagnosed Partial Ornithine Transcarbamylase Deficiency Presenting Postoperatively as Agitated Delirium.

Partial ornithine transcarbamylase deficiency (pOTCD), an enzymatic defect within the urea cycle, is an increasingly recognized etiology for hyperammonemia of unclear source following a stressor within female adults. Here we present a case of newly diagnosed pOTCD following a systemic stressor and prolonged hospitalization course. From a neurological perspective, prompt recognition provided the patient with a swift and near complete recovery. We briefly review the pertinent literature pertaining to this genetically based condition including historical context and current therapeutic approaches. Given the potential morbidity of prolonged hyperammonemia, neurohospitalists need to be aware of partial ornithine transcarbamylase as an entity.

Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease.

Acute metabolic decompensation in maple syrup urine disease can occur during intercurrent illness and is a medical emergency. A handful of reports in the medical literature describe the use of peritoneal dialysis and haemodialysis as therapeutic inventions. We report the only patient from our centre to have haemodialysis performed in this setting. Combined with dietary BCAA restriction and calorific support, haemodialysis allows rapid reduction in plasma leucine concentrations considerably faster than conservative methods.

Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome.

We report a patient with Leigh syndrome shown to have two previously undescribed truncating mutations in the TTC19 gene. Our patient is a 4-year-old boy with global developmental delay, language regression at 13 months, and brain MRI showing T2 high-signal lesions involving the putamen, caudate body, and the brainstem, which appear to be progressing. Molecular testing showed our patient is heterozygous for two previously undescribed mutations in the TTC19 gene, c.577G>A (p.Trp186Stop) and c.964_967delGGCT (p.Gly322MetfsX8), both of which are predicted to cause loss of protein function due to either protein truncation or nonsense-mediated mRNA decay. TTC19 encodes tetratricopeptide 19 (TTC19) and is thought to be a complex III (CIII) assembly factor that is embedded on the inner mitochondrial membrane as part of two high-molecular-weight complexes, one of which coincides with CIII. The initial presentations of previously described patients with TTC19 mutations are heterogeneous and can be from childhood to adulthood. In summary, TTC19 mutations have been shown to affect CIII complex function, which results in a heterogeneous clinical phenotype including Leigh syndrome.