Psychological supports for people living with a rare disease in Ireland: an online survey-based study.

Background: People living with rare diseases have reported high unmet support needs for access to psychological services despite the significant impact rare diseases have on mental health.

Aims: This study aimed to explore experiences in accessing psychological supports in the Republic of Ireland, and ways in which supports can be improved.

Methods: An online survey was distributed to people living with rare diseases through Irish rare disease patient organisations and expert centres (May-June 2023).

Brain function in classic galactosemia, a galactosemia network (GalNet) members review.

Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsychological/social emotional difficulties, neurological symptoms, and abnormalities in neuroimaging and electrophysiological assessments are frequently reported in this group of patients, with an enormous individual variability. In this review, we describe the role of impaired galactose metabolism on brain dysfunction based on state of the art knowledge.

Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations.

Organic acidurias are a heterogeneous group of rare inherited metabolic disorders (IMDs) caused by a deficiency of an enzyme or a transport protein involved in the intermediary metabolic pathways. These enzymatic defects lead to an accumulation of organic acids in different tissues and their subsequent excretion in urine. Organic acidurias include maple syrup urine disease, propionic aciduria, methylmalonic aciduria, isovaleric aciduria, and glutaric aciduria type 1.