Phosphoserine aminotransferase deficiency

Preferred Label : Phosphoserine aminotransferase deficiency;

Symbol : PSATD;

CISMeF acronym : PSATD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Psat deficiency;

Description : Deficiency of phosphoserine aminotransferase (PSAT; EC 2.6.1.52) is characterized biochemically by low plasma and cerebrospinal fluid (CSF) concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. Outcome is poor once the individual becomes symptomatic, but treatment with serine and glycine supplementation from birth can lead to a normal outcome (Hart et al., 2007).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphoserine aminotransferase-1 gene (PSAT1, 610936.0001);

Laboratory abnormalities : Decreased plasma serine; Decreased plasma glycine; Decreased CSF serine; Decreased CSF glycine;

Prefixed ID : #610992;

Détails

Origin ID

610992;

UMLS CUI

C1970253;

Currated CISMeF NLP mapping
- Deficiency of phosphoserine aminotransferase (disorder) [SNOMED CT concept]
- Neurometabolic disorder due to serine deficiency [ORDO Disease]
- PSAT deficiency [DO Concept]
- Phosphoserine aminotransferase deficiency [ICD-11 More detail]
- Phosphoserine aminotransferase deficiency, infantile/juvenile form [ORDO Disease]
- phosphoserine aminotransferase deficiency [MeSH concept]
- phosphoserine aminotransferase deficiency [MeSH Supplementary Concept]
DO Cross reference
- PSAT deficiency [DO Concept]
Genes related to phenotype
- Phosphoserine aminotransferase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Global developmental delay [HPO term]
- Hypertonia [HPO term]
- Hypoglycinemia [HPO term]
- Hyposerinemia [HPO term]
- Infantile onset [HPO term]
- Intractable seizures [HPO term]
- Microcephaly, acquired [HPO term]
- Psychomotor retardation [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Phosphoserine aminotransferase deficiency, infantile/juvenile form [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of phosphoserine aminotransferase (disorder) [SNOMED CT concept]
- Neurometabolic disorder due to serine deficiency [ORDO Disease]
- PSAT deficiency [DO Concept]
- Phosphoserine aminotransferase deficiency [ICD-11 More detail]
- Phosphoserine aminotransferase deficiency, infantile/juvenile form [ORDO Disease]
- phosphoserine aminotransferase deficiency [MeSH Supplementary Concept]
- phosphoserine aminotransferase deficiency [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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