Caso contributivo
L’omocistinuria classica in età pediatrica
Classic homocystinuria in childhood
Aldo Ravaglia1, Giulia Costagliola2, Marco Spada3
1Pediatra, Chivasso (Torino)
2Scuola di Specializzazione in Pediatria, Università di Torino
3SC di Pediatria, Ospedale Infantile Regina Margherita, Città della Salute e della Scienza di Torino
Dicembre 2021 | DOI: 10.53126/MEBXXIV309
Abstract
Classical homocystinuria is an inborn error of methionin metabolism. It is characterized by an accumulation of homocysteine, due to a deficiency of the enzyme involved in its metabolism, namely cystathionine beta synthase. If not treated, the increase in homocysteine leads to a multisystem syndrome that involves connective tissue, nervous and vascular systems with a predisposition to thromboembolism and developmental delay in childhood. An early diagnosis allows the specific therapy to be promptly started and prevents the classical manifestations of the disease. Since 2016 in Italy homocystinuria detection has been included in the expanded newborn screening. However, it is important not to forget this disease, because of its severe consequences of an untreated condition on the quality and expectancy of life.
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