Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.

In the UK, Classical Galactosaemia (CG) is identified incidentally from the Newborn Screening (NBS) for phenylketonuria (PKU) using an "Other disorder suspected" (ODS) pathway when phenylalanine (Phe) and tyrosine (Tyr) concentrations are increased. We aimed to determine the efficacy of CG detection via NBS and estimate the incidence of CG in live births in the UK. A survey was sent to all UK NBS laboratories to collate CG cases diagnosed in the UK from 2010 to 2020.

Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices.

Measurement of plasma and dried blood spot (DBS) phenylalanine (Phe) is key to monitoring patients with phenylketonuria (PKU). The relationship between plasma and capillary DBS Phe concentrations has been investigated previously, however, differences in methodology, calibration approach and assumptions about the volume of blood in a DBS sub-punch has complicated this. Volumetric blood collection devices (VBCDs) provide an opportunity to re-evaluate this relationship.

Cross-sectional audit assessing the quality of dried bloodspot specimens received by UK metabolic biochemistry laboratories for the biochemical monitoring of individuals with Phenylketonuria.

Background: Sapropterin has been approved as a treatment option for individuals with Phenylketonuria in the United Kingdom. Individuals are assessed as responsive to Sapropterin by a ≥30% reduction in Phenylalanine (Phe) concentrations using dried blood spot (DBS) specimens. DBS quality is critical for accurate and precise measurement of Phe.

Infantile hypercalcaemia type 1: a vitamin D-mediated, under-recognised cause of hypercalcaemia.

Summary: A 33-year-old gentleman of Egyptian heritage presented with a 21 years history of unexplained and recurrent hypercalcaemia, nephrolithiasis, nephrocalcinosis, and myocarditis. A similar history was also found in two first-degree relatives. Further investigation into the vitamin D metabolism pathway identified the biochemical hallmarks of infantile hypercalcaemia type 1 (IIH).

The association between overweight/obesity and double diabetes in adults with type 1 diabetes; a cross-sectional study.

Background: Double Diabetes (DD), type 1 diabetes (T1DM) + insulin resistance (IR), is associated with increased risk of micro/macro-vascular complications and mortality. Obesity can contribute to the development of DD. This study explored the prevalence of overweight/obesity and their association with DD in adults with T1DM.

Screening for valve disease in patients with hyperprolactinaemia disorders prescribed cabergoline: a service evaluation and literature review.

Objectives: The indication for screening for valvular heart disease in patients taking cabergoline is based on evidence from patients with Parkinson's disease on high-dose medication. However, current patients take much lower doses for indications such as hyperprolactinaemia disorders. Contemporary guidelines for echocardiogram monitoring in patients taking cabergoline are conflicting.