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Up to: Inborn disorder of serine family metabolism · Inborn serine deficiency

Neurometabolic disorder due to serine deficiency

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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3-phosphoglycerate dehydrogenase deficiency 1 trial Sub-types →
PSAT deficiency 0 trials
PSPH deficiency 0 trials
Serine biosynthesis pathway deficiency, infantile/juvenile form 0 trials
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0 trials