Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.
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glycine encephalopathy
MONDO:0011612
PSAT deficiency
MONDO:0012596
PSPH deficiency
MONDO:0013531
spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
MONDO:0014725
3-phosphoglycerate dehydrogenase deficiency
MONDO:0018491
serine biosynthesis pathway deficiency, infantile/juvenile form
MONDO:0035004