Liver histology in children with glycogen storage disorders type VI and IX.

Background: Glycogen storage diseases (GSD) type VI and IX are caused by liver phosphorylase system deficiencies and the two types are clinically indistinguishable.

Aim: As the role of liver biopsy is increasingly questioned, we aim to assess its current value in clinical practice.

Methods: We retrospectively reviewed children with diagnosis of GSD VI and IX at a paediatric liver centre between 2001 and 2018.

Laser microdissection microscopy: application to cell culture.

Laser microdissection (LMD) microscopy allows isolation of specific cell populations to target their -molecular profile. There are several different types of LMD microscopes, but they are all based on the same principle. A laser beam is used to cut out cells or tissues of interest from a histological section, cytology preparations, or live cells from tissue cultures.

Ornithine transcarbamoylase deficiency presenting with acute liver failure.

Ornithine transcarbamoylase (OTC) deficiency is the most common hereditary urea cycle disorder. It is an X-linked recessive disorder that usually presents with encephalopathy and hyperammonaemia. We report a 14-month-old female carrier of OTC deficiency, who presented with a history of intermittent vomiting for 5 weeks and irritability and lethargy for 1 week.