Articles tagged with Newborn screening
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Zellweger Syndrome
Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction, and psychomotor impairment,…
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The Hidden Niemann-Pick Type C Patient
Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to…
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A Race Against the Clock – Diagnosing Genetic Conditions in Newborns and Children
Up to one third of all babies and children admitted to the intensive care unit (ICU) have a genetic disease. For many of them early identification can make a difference for their immediate and later health.
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Genetic Testing of Mitochondrial Diseases
Mitochondrial diseases are genetic conditions that occur when mitochondria are failing to produce enough energy for the cell.
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Newborn Screening for Lysosomal Storage Disorders in Hungary
Even though lysosomal storage disorders (LSDs) are considered to be orphan diseases, they pose a highly relevant cause for morbidity and mortality as their cumulative prevalence is estimated to be 1:4,000. Overall, we conclude that screening for LSDs by tandem MS/MS followed by a genetic workup in…