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We report on the seventh known patient with S-adenosylhomocysteine hydrolase (SAHH) deficiency presenting at birth with features resembling phosphomannomutase 2 (PMM2-CDG Ia) deficiency. Plasma methionine and total homocysteine levels were normal at 2months and increased only after the 8th month of age. SAHH deficiency was confirmed at 4.5years of age by showing decreased SAHH activity (11% in both...
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