What is Blue Diaper Syndrome? childhealth bluediaper raredisease
Epidemiology of Blue Diaper SyndromeReferences
A recent study reported that an association between PCSK1 mutation and blue diaper syndrome might be possible. PCSK1 genes encode for prohormone convertase 1/3, a calcium-dependent serine endoprotease required for the processing and activation of peptide hormones . In this genetic disorder, autosomal recessive or X-linked recessive inheritance is observed.
Related StoriesHaving both parents who are carriers of the gene mutation linked to Blue Diaper Syndrome is one of the predisposing risk factors. Even though Blue Diaper Syndrome is autosomal recessive, the gene mutation is linked to the sex gene . As a result, having the gene mutation run in the family is the most significant risk factor for developing this disease.
United Kingdom Latest News, United Kingdom Headlines
Similar News:You can also read news stories similar to this one that we have collected from other news sources.
Leeds' David Oluwale blue plaque torn down again in 'sick' hate crimeThe blue plaque at Leeds Bridge, honoured the man who died after being hounded to his death by two police officers
Read more »
What is Johanson-Blizzard Syndrome?This article looks at Johanson–Blizzard syndrome (JBS), a rare autosomal recessive condition caused by homozygous and compound heterozygous mutations in the UBR1 gene.
Read more »
Kate Garraway gives update as she wows in hot pink alongside ITV co-starsKate Garraway gives update after plea as she wows in hot pink display alongside ITV co-stars Susanna Reid and Holly Willoughby
Read more »
How to leave imposter syndrome behind in the workplace, from self-love to support groupsWorking hard yet feeling that you don’t deserve the reward is all too common says Emilie Bellet, the founder of Vestpod and author of You're Not Broke, You're Pre-Rich
Read more »