Mitochondrial HMG-CoA synthase deficiency.

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 (HMGCS2) deficiency is a rare, potentially life-threatening autosomal recessive disorder resulting from mutations in the HMGCS2 gene, leading to impaired ketogenesis. We systematically reviewed the clinical presentations, biochemical and genetic abnormalities in 93 reported cases and 2 new patients diagnosed based on biochemical findings. Reported onset ages ranged from 3 months to 6 years, mostly before the age of 3.

Critical Results in Laboratory Medicine.

Background: Timely and accurate notification of critical results is crucial in laboratory medicine and mandated by accreditation standards like ISO15189. Alert lists do, however, vary widely and clinical laboratories typically rely on a combination of in-house agreed and/or literature-based critical values. Communication by phone is still the preferred method of notification, but digital communication could help improve communication of critical results.