IEMbase 0034: PSPH-related phosphoserine phosphatase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 34 |
| Nosology | 1.6.03.01 |
| Gene | PSPH |
| External IDs | OMIM:172480; OMIM:614023 |
| Generated mapping | UNMAPPED; best fuzzy candidate Pyruvate_Dehydrogenase_Deficiency.yaml |
| Candidate DisMech targets | none currently valid |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase presents PSPH deficiency as a serine-biosynthesis disorder. The biochemical signature is low CSF serine and low-to-normal plasma serine.
The clinical signal is narrower than the PHGDH record: psychomotor delay, tonic-clonic seizures, growth retardation, and intellectual disability. IEMbase lists nutritional glycine and L-serine as treatments.
DisMech phenotype coverage
There is no local DisMech entry or subtype for PSPH-related phosphoserine
phosphatase deficiency. The generated fuzzy candidate,
Pyruvate_Dehydrogenase_Deficiency.yaml, should be rejected. It contains a PDH
phosphatase regulatory subtype, but that is a mitochondrial pyruvate
dehydrogenase complex disorder with lactic acidosis and impaired pyruvate
oxidation, not a phosphoserine phosphatase defect in de novo serine synthesis.
Concordance and completeness
Judgement: generated unmapped status is correct, and the PDH candidate is a lexical false positive driven by the word phosphatase.
IEMbase supplies a compact phenotype set for a future PSPH curation target. Its distinguishing features are low CSF serine, relatively mild or variable plasma serine reduction, developmental delay, seizures, growth retardation, and serine/glycine supplementation.
Curation actions
- Do not map this record to
Pyruvate_Dehydrogenase_Deficiency.yaml. - Consider PSPH deficiency in the same future serine-biosynthesis work package as PHGDH and PSAT1 deficiency.
- Preserve the distinction between low CSF serine and low-to-normal plasma serine if a future entry is created.