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Neonatal methionine adenosyltransferase I/III deficiency with abnormal signal intensity in the central tegmental tract.
Brain & Development 2018 October 31
Methionine adenosyltransferase I/III (MAT I/III) deficiency is characterized by persistent hypermethioninemia. The clinical manifestations in cases with MAT I/III deficiency vary from a complete lack of symptoms to neurological problems associated with brain demyelination. We experienced a neonatal case with MAT I/III deficiency, in which severe hypermethioninemia was detected during the newborn screening test. The patient gradually showed hyperreflexia, foot clonus, and irritability from the age of 1 month onwards, and his brain magnetic resonance imaging scans showed abnormal signal intensity in the bilateral central tegmental tracts. His neurological manifestations improved after the S-adenosylmethionine (SAMe) treatment, deteriorated after discontinuation of SAMe, and re-improved owing to re-administration of SAMe. He achieved normal neurodevelopment through SAMe and methionine restriction therapy. Lack of SAMe as well as severe hypermethioninemia were thought to contribute towards the clinical psychophysical state. Moreover, impaired MAT I/III activity contributed to the development of neurological disorder from the early neonatal period.
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