Title : Hypermethioninemia in Campania: Results from 10 years of newborn screening.

Pub. Date : 2019 Dec

PMID : 31641591






1 Functional Relationships(s)
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Protein Name
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1 Newborn screening by MS/MS on dried blood spot samples (DBS) has one of its items in methionine levels: the knowledge of this parameter allows the identification of infant affected by homocystinuria (cystathionine beta-synthase, CBS, deficiency) but can also lead, as side effect, to identify cases of methionine adenosyltransferase (MAT) type I/III deficiency. Methionine methionine adenosyltransferase 1A Homo sapiens