The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland.

We present a case series of seven patients (5 males, 2 females, aged 7-38 yrs.) in Ireland with biopterin metabolism disorder. Five individuals had been diagnosed with dihydropteridine reductase (DHPR) deficiency and two with pyruvoyl tetrahydropterin synthase (PTPS) deficiency.

Efficacy and Safety of a Biosimilar Liraglutide (Melitide) Versus the Reference Liraglutide (Victoza) in People with Type 2 Diabetes Mellitus: A Randomized, Double-Blind, Noninferiority Clinical Trial.

Introduction: Liraglutide effectively controls blood glucose level and reduces body weight. The aim of this study was to compare the efficacy and safety of a biosimilar liraglutide (Melitide; CinnaGen, Tehran, Iran) to the reference liraglutide (Victoza; Novo Nordisk, Bagsvaerd, Denmark) in people with type 2 diabetes mellitus (T2DM).

Methods: In this phase 3 clinical noninferiority trial, adult patients with inadequately controlled T2DM and with hemoglobin A (HbA) levels of 7-10.

An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population.

Unlabelled: The Irish Traveller population are an endogamous, traditionally nomadic, Irish population. Irish Travellers practice consanguinity in the majority of marriages, thus resulting in a higher rate of rare autosomal recessive conditions within the population due to homozygous variants. Herein, we outline the clinical phenotypes associated with metabolic conditions seen in this population presenting in the neonatal period, infancy and childhood.

Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients.

Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder that can lead to encephalopathic crises and severe dystonic movement disorders. Adherence to strict dietary restriction, in particular a diet low in lysine, carnitine supplementation and emergency treatment in pre-symptomatic patients diagnosed by high-risk screen (HRS) or newborn screen (NBS) leads to a favourable outcome. We present biochemical and clinical characteristics and long-term outcome data of 34 Irish patients with GA1 aged 1-40 years.