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Serine biosynthesis pathway deficiency, infantile/juvenile form

MedGen UID:
1830119
Concept ID:
C5681678
Disease or Syndrome
Synonym: serine biosynthesis pathway deficiency, infantile/juvenile form
SNOMED CT: Serine biosynthesis pathway deficiency, infantile/juvenile form (1284855000)
 
Monarch Initiative: MONDO:0035004
Orphanet: ORPHA583595

Definition

A rare inborn error of metabolism comprising 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency and phosphoserine aminotransferase deficiency. The disease has a phenotypic spectrum ranging from congenital microcephaly, psychomotor retardation and intractable seizures in the infantile forms to milder juvenile forms with moderate developmental delay and intellectual disability. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSerine biosynthesis pathway deficiency, infantile/juvenile form

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