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.
MONDO:0000421
inborn serine deficiency
is_a
MONDO:0019239
inborn disorder of serine family metabolism
is_a
neurometabolic disorder due to serine deficiency
exact
serine deficiency
exact
SPBC3H7.07c SPAC1F12.07 SPCC364.07