Publications by authors named "Roberta Zordan"
Article Synopsis
- - Multiple acyl-CoA dehydrogenase deficiency, also known as glutaric aciduria type II, is a genetic disorder affecting fatty acid metabolism, caused by mutations in the ETFA, ETFB, or ETFDH genes.
- - Symptoms can range from severe cases in newborns to milder cases in older individuals, making age and clinical presentation quite variable.
- - Two patients in their seventies were identified as carriers of the ETFDH mutation and showed improvement in symptoms and biochemical markers after treatment with riboflavin and L-carnitine, highlighting the need to consider this disorder in the diagnosis of myopathies even in older adults.
Background: Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) to diagnose LSDs and permit early intervention to prevent irreversible impairment or severe disability. We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases.
View Article and Find Full Text PDFCoenzyme Q (CoQ, or ubiquinone) is a remarkable lipid that plays an essential role in mitochondria as an electron shuttle between complexes I and II of the respiratory chain, and complex III. It is also a cofactor of other dehydrogenases, a modulator of the permeability transition pore and an essential antioxidant. CoQ is synthesized in mitochondria by a set of at least 12 proteins that form a multiprotein complex.
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