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PSAT deficiency
ICD-10 Codes
Related ICD-10:
Description
Phosphoserine Aminotransferase (PSAT) Deficiency Description
PSAT deficiency, also known as phosphoserine aminotransferase deficiency, is an extremely rare form of serine deficiency syndrome. It is characterized by low plasma and cerebrospinal fluid concentrations of serine and glycine.
Clinical Presentation:
The clinical presentation of PSAT deficiency includes:
- Intractable seizures
- Microcephaly (small head size)
- Hypertonia (increased muscle tone)
- Psychomotor retardation
These symptoms are often present in individuals with PSAT deficiency, although the severity and progression may vary.
Biochemical Characteristics:
PSAT deficiency is characterized biochemically by low plasma and cerebrospinal fluid concentrations of serine and glycine. This is due to the impaired activity of the phosphoserine aminotransferase enzyme, which is essential for serine biosynthesis.
References:
- [1] Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by low plasma and cerebrospinal fluid concentrations of serine and glycine. (Source: 8)
- [2] The clinical presentation of PSAT deficiency includes intractable seizures, microcephaly, hypertonia, and psychomotor retardation. (Source: 7)
- [3] PSAT deficiency is characterized biochemically by low plasma and cerebrospinal fluid concentrations of serine and glycine. (Source: 5)
Additional Characteristics
- microcephaly
- psychomotor retardation
- PSAT deficiency
- serine deficiency syndrome
- intractable seizures
- hypertonia
- low plasma and cerebrospinal fluid concentrations of serine and glycine
Signs and Symptoms
Common Signs and Symptoms of PSAT Deficiency
PSAT (Phosphoserine aminotransferase) deficiency is a rare genetic disorder that affects the nervous system. The signs and symptoms of this condition can vary in severity and presentation, but here are some common ones:
- Seizures: Seizures are one of the most frequent and severe manifestations of PSAT deficiency [1].
- Hypertonia: Hypertonia, or increased muscle tone, is another common symptom of this condition [2].
- Microcephaly: Microcephaly, a small head size, is often observed in individuals with PSAT deficiency [3].
- Psychomotor dysfunctions: Individuals with PSAT deficiency may experience delays or abnormalities in motor skills and cognitive development [4].
- Global developmental delay: A delay in achieving motor or mental milestones in various domains of development, including speech and language, cognitive skills, and physical growth, is also a characteristic feature of this condition [5].
These symptoms can be present at birth or may develop later in infancy or childhood. The severity and progression of the symptoms can vary significantly among affected individuals.
References:
[1] Context 4: "The presenting symptoms in the majority of patients included epilepsy and skin changes."
[2] Context 5: "This is a severe neurological disorder presenting typically with congenital microcephaly, seizures, psychomotor retardation, and spastic tetraparesis."
[3] Context 1: "Microcephaly [small head percentile circumference] · Psychomotor dysfunctions. · Global developmental..."
[4] Context 2: "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..."
[5] Context 5: "This is a severe neurological disorder presenting typically with congenital microcephaly, seizures, psychomotor retardation, and spastic tetraparesis."
Additional Symptoms
- Global developmental delay
- Microcephaly
- Seizures
- Hypertonia
- Psychomotor dysfunctions
Diagnostic Tests
Diagnostic Testing for PSAT Deficiency
PSAT (Phosphoserine Aminotransferase) deficiency can be diagnosed through various genetic and biochemical tests.
- Genetic testing: Diagnostic testing of the PSAT1 gene is recommended to identify a potential genetic basis for the condition. This type of testing can inform prognosis and clinical management [3].
- Biochemical tests: Blood count, blood biochemistry, serum CK, inflammatory tests, paraneoplastic antibody panel, thyroid hormones, serum vitamin B12 and folic acid were within normal limits in one study [8]. However, other studies have reported low plasma and cerebrospinal fluid concentrations of serine and glycine in individuals with PSAT deficiency [9].
- Imaging studies: MRI scans can be used to help diagnose conditions associated with PSAT deficiency, such as acquired microcephaly, psychomotor retardation, intractable seizures, and hypertonia [2].
It's essential to consult a healthcare professional for accurate diagnosis and management of PSAT deficiency.
References:
[1] Clinical Genetic Test offered by Intergen for conditions (1): PSAT deficiency; Testing genes (1): PSAT1 (9q21.2); Methodology includes Next-Generation Sequencing [4].
[2] A recent study found that PSAT deficiency should be considered for children with unexplained neurological symptoms, and the results of an MRI scan can be used to help diagnose conditions and plan management [2].
[3] Diagnostic testing of this gene is recommended to identify a potential genetic basis for a condition. This type of testing can inform prognosis and clinical management [3].
[4] Clinical resource with information about PSAT deficiency and its clinical features, PSAT1, available genetic tests from US and labs around the world and ... [1].
Additional Diagnostic Tests
- Biochemical tests
- Genetic testing
- Imaging studies
Treatment
Based on the provided context, it appears that there are some studies and information available regarding the treatment of PSAT (Phosphoserine aminotransferase) deficiency.
According to search result [11], due to the rare nature of
Recommended Medications
- No specific drug or treatment for PSAT deficiency mentioned
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
The differential diagnosis of PSAT (Phosphoserine Synthase 1) deficiency involves considering other conditions that may present with similar symptoms.
- Serine Deficiency Disorders: PSAT deficiency is a type of serine deficiency disorder, which also includes PHGDH and PSPH deficiencies. These disorders are characterized by the inability to synthesize sufficient serine, leading to various clinical manifestations [3][7].
- 3-PGDH Deficiency: This condition presents with seizures that respond to amino acid therapy, whereas PSAT deficiency may not show a similar response [4]. Therefore, distinguishing between these two conditions is crucial.
- Neu-Laxova Syndrome 1 (NLS-1): NLS-1 is another condition that should be considered in the differential diagnosis of PHGDH, which is associated with PSAT deficiency. Patients with NLS-1 typically exhibit more severe symptoms than those with PSAT deficiency [10].
- Secondary Systemic or Cerebral Folate Deficiency: Certain rare conditions can lead to secondary systemic or cerebral folate deficiency, which may present with similar symptoms to PSAT deficiency. These conditions should be considered in the differential diagnosis [9].
It's essential to establish a definitive diagnosis of PSAT deficiency through genetic testing and clinical evaluation to guide appropriate management and treatment.
References: [3] SN van der Crabben · 2023 · Cited by 3 — The diagnosis of a serine deficiency disorder is established in a proband with biallelic pathogenic variants in PHGDH, PSAT1, or PSPH identified ... [4] Mar 6, 2013 — In 3-PGDH deficiency, the seizures respond to amino acid therapy, whereas in the symptomatic PSAT patient there was no clinical response at all. [7] by SN van der Crabben · 2013 · Cited by 135 — Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine biosynthesis pathway. [9] Several rare conditions are known which are associated with secondary systemic or cerebral folate deficiency and should be considered in the differential ... [10] After establishing serine deficiency, Neu-Laxova syndrome 1 (NLS-1) is the primary differential diagnosis of PHGDHD. NLS patients usually show a more severe ...
Additional Differential Diagnoses
- Secondary Systemic or Cerebral Folate Deficiency
- Neu-Laxova syndrome 2
- Serine Deficiency Disorders
- 3-PGDH Deficiency
Additional Information
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- 2012-06-13T03:09:31Z
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- MIM:610992
- IAO_0000115
- A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid.
- oboInOwl#hasExactSynonym
- Phosphoserine aminotransferase deficiency
- relatedICD
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- http://purl.obolibrary.org/obo/DOID_0050721
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