Phosphoserine aminotransferase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: PSATD
psat deficiency
Number of Symptoms 19
OrphanetNr: 284417
OMIM Id: 610992
ICD-10: E72.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Neurometabolic disorder due to serine deficiency
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0005484) Postnatal microcephaly 32 / 7739
2
(HPO:0001250) Seizures 1245 / 7739
3
(HPO:0001263) Global developmental delay 853 / 7739
4
(HPO:0001276) Hypertonia 317 / 7739
5
(HPO:0008872) Feeding difficulties in infancy 153 / 7739
6
(HPO:0011968) Feeding difficulties 240 / 7739
7
(HPO:0012279) Hyposerinemia 1 / 7739
8
(HPO:0012277) Hypoglycinemia 1 / 7739
9
(HPO:0003593) Infantile onset 249 / 7739
10
(OMIM) Decreased plasma glycine 1 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Jerking movements 1 / 7739
13
(OMIM) Intractable seizures 12 / 7739
14
(OMIM) Decrease plasma serine (fasting) 2 / 7739
15
(OMIM) Brain imaging shows generalized atrophy 1 / 7739
16
(HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
17
(MedDRA:10036437) Posturing 1 / 7739
18
(OMIM) Decreased CSF glycine 2 / 7739
19
(OMIM) Decreased CSF serine 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Hart et al. (2007) identified PSAT deficiency in a brother and sister, the children of nonconsanguineous British parents, who showed low concentrations of serine and glycine in plasma and CSF. The index patient was healthy at birth, with ...
Molecular genetics OMIM In 2 sibs with PSAT deficiency, Hart et al. (2007) identified compound heterozygosity for mutations in the PSAT1 gene: a frameshift mutation on the paternal allele (G107del; 610936.0001) and a missense mutation on the maternal allele (D100A; 610936.0002). ...