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PSAT deficiency(PSATD)

MedGen UID:: 410026
•Concept ID:: C1970253
•: Disease or Syndrome

Synonym:	Phosphoserine aminotransferase deficiency
SNOMED CT:	Phosphoserine aminotransferase deficiency (718603002); Deficiency of phosphoserine aminotransferase (718603002)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	PSAT1 (9q21.2)

Monarch Initiative:	MONDO:0012596
OMIM®:	610992
Orphanet:	ORPHA284417

Definition

Deficiency of phosphoserine aminotransferase (PSAT) 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). [from OMIM]

Clinical features

From HPO

Feeding difficulties

MedGen UID:: 65429
•Concept ID:: C0232466
•: Finding

Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.

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Myoclonus

MedGen UID:: 10234
•Concept ID:: C0027066
•: Finding

Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.

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Seizure

MedGen UID:: 20693
•Concept ID:: C0036572
•: Sign or Symptom

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

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Global developmental delay

MedGen UID:: 107838
•Concept ID:: C0557874
•: Finding

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

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Cerebellar vermis hypoplasia

MedGen UID:: 333548
•Concept ID:: C1840379
•: Finding

Underdevelopment of the vermis of cerebellum.

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Decreased CSF serine concentration

MedGen UID:: 1698256
•Concept ID:: C5139613
•: Finding

Abnormally decreased levels of serine in cerebrospinal fluid.

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Decreased CSF glycine concentration

MedGen UID:: 1815110
•Concept ID:: C5706204
•: Finding

Abnormally decreased levels of glycine in cerebrospinal fluid.

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Hypertonia

MedGen UID:: 10132
•Concept ID:: C0026826
•: Finding

A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.

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Secondary microcephaly

MedGen UID:: 608952
•Concept ID:: C0431352
•: Finding

Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.

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Apnea

MedGen UID:: 2009
•Concept ID:: C0003578
•: Sign or Symptom

Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.

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Hyposerinemia

MedGen UID:: 868572
•Concept ID:: C4022971
•: Finding

Reduced concentration of serine in the blood.

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Hypoglycinemia

MedGen UID:: 868574
•Concept ID:: C4022973
•: Finding

An abnormally reduced concentration of glycine in the blood.

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Cyanotic episode

MedGen UID:: 451066
•Concept ID:: C0578475
•: Sign or Symptom

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Abnormality of metabolism/homeostasis
- Hypoglycinemia
- Hyposerinemia
Abnormality of the digestive system
- Feeding difficulties
Abnormality of the integument
- Cyanotic episode
Abnormality of the musculoskeletal system
- Hypertonia
- Secondary microcephaly
Abnormality of the nervous system
Abnormality of the respiratory system
- Apnea

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPSAT deficiency

Neurometabolic disorder due to serine deficiency
- Serine biosynthesis pathway deficiency, infantile/juvenile form
  - PSAT deficiency

Follow this link to review classifications for PSAT deficiency in Orphanet.

Recent clinical studies

Diagnosis

An update on serine deficiency disorders.

van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, Van Maldergem L, Coskun T, Rubio-Gozalbo E, Berger R, de Koning TJ
J Inherit Metab Dis 2013 Jul;36(4):613-9. Epub 2013 Mar 6 doi: 10.1007/s10545-013-9592-4. PMID: 23463425

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Therapy

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.

Glinton KE, Benke PJ, Lines MA, Geraghty MT, Chakraborty P, Al-Dirbashi OY, Jiang Y, Kennedy AD, Grotewiel MS, Sutton VR, Elsea SH, El-Hattab AW
Mol Genet Metab 2018 Mar;123(3):309-316. Epub 2017 Dec 12 doi: 10.1016/j.ymgme.2017.12.009. PMID: 29269105

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Clinical prediction guides

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.

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MedGen

National Center for Biotechnology Information

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PSAT deficiency(PSATD)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Diagnosis

Therapy

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

Recent activity