PSAT deficiency
Findings
No curated finding names PSAT deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.
Definition from the Mondo Disease Ontology (MONDO:0012596), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Neonatal onset
HPO, annotations 2026-09-02
Features
45 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased CSF glycine concentrationHPOHP:0034390
- 2 of 2 reported patients
- Decreased CSF serine concentrationHPOHP:0500228
- 2 of 2 reported patients
- HypoglycinemiaHPOHP:0012277
- 2 of 2 reported patients
- HyposerinemiaHPOHP:0012279
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Failure to thrive in infancyHPOHP:0001531
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
Show the remaining 33
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- 1 of 2 reported patients
- Frequent (30% to 79% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Thickened nuchal skin foldHPOHP:0000474
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PSAT1HGNC:19129
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: PSAT deficiency
- Also called
- phosphoserine aminotransferase deficiency