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PSPH deficiency
ICD-10 Codes
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Description
PSPH Deficiency: A Rare Genetic Disorder
PSPH deficiency, also known as phosphoserine phosphatase deficiency, is a rare genetic disorder caused by mutations in the PSPH gene [7]. This condition is characterized by an extremely low activity of the phosphoserine phosphatase enzyme, which is essential for the synthesis of L-serine [3].
Clinical Features
Individuals with PSPH deficiency may exhibit severe clinical features, including:
- Congenital microcephaly (small head size) [5]
- Severe developmental delay and intellectual disability [4]
- Infantile-onset serine deficiency syndrome is characterized by seizures, microcephaly, developmental delay, intellectual disability, and spastic quadriplegia [4]
- Juvenile-onset serine deficiency presents with seizures and many develop spastic quadriplegia [4]
Causes
PSPH deficiency is caused by mutations in the PSPH gene, which encodes for the phosphoserine phosphatase enzyme. This enzyme plays a crucial role in the third and last step of L-serine formation, catalyzing magnesium-dependent hydrolysis of L-phosphoserine [3].
Prevalence
PSPH deficiency is an extremely rare form of serine deficiency syndrome, with only a few reported cases in medical literature.
References:
[3] - Phosphoserine phosphatase is an enzyme encoded by the PSPH gene. The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein ...
[4] - Infantile-onset serine deficiency is characterized by seizures, microcephaly, developmental delay, intellectual disability, and spastic quadriplegia. Individuals that present with juvenile-onset serine deficiency have seizures and many develop spastic quadriplegia.
[5] - 3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe ...
[7] - Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome. This condition is caused by mutations to the PSPH gene.
Additional Characteristics
- PSPH deficiency, also known as phosphoserine phosphatase deficiency
- Congenital microcephaly (small head size)
- Severe developmental delay and intellectual disability
- Infantile-onset serine deficiency syndrome
- Juvenile-onset serine deficiency
- Phosphoserine phosphatase enzyme
- Mutations in the PSPH gene
- L-serine formation
- Magnesium-dependent hydrolysis of L-phosphoserine
Signs and Symptoms
Clinical Signs and Symptoms of PSPH Deficiency
PSPH deficiency, also known as phosphoserine phosphatase deficiency, is a rare genetic disorder characterized by several distinct clinical signs and symptoms.
- Congenital Microcephaly: Affected individuals are born with a smaller than normal head size ([4]).
- Seizures: Seizure activity is a common feature of PSPH deficiency, often presenting in infancy or early childhood ([6], [5]).
- Psychomotor Retardation: Individuals with PSPH deficiency may experience significant delays in achieving motor and mental milestones ([3], [6]).
- Spastic Tetraparesis: This condition is characterized by stiffness and weakness of all four limbs, leading to impaired mobility ([6]).
- Distinctive Facial Features: Affected individuals often exhibit a range of facial abnormalities, including:
- Sloping forehead
- Hypertelorism (increased distance between the eyes)
- Proptotic eyes with absent lids or ectropion (a condition where the eyelids turn outward)
- Flattened nose
- Thick everted lips ([7])
- Prenatal and Postnatal Growth Retardation: Individuals with PSPH deficiency may experience growth delays both before and after birth ([8])
These clinical signs and symptoms can vary in severity and presentation, but they are commonly associated with PSPH deficiency.
Additional Symptoms
- Seizures
- Distinctive Facial Features
- Congenital Microcephaly
- Psychomotor Retardation
- Spastic Tetraparesis
- Prenatal and Postnatal Growth Retardation
Diagnostic Tests
Diagnostic Testing for Phosphoserine Phosphatase (PSPH) Deficiency
Phosphoserine phosphatase (PSPH) deficiency is a rare genetic disorder that can be diagnosed through various diagnostic tests. The primary goal of these tests is to identify mutations in the PSPH gene, which encodes the enzyme responsible for converting 3-phosphohydroxypyruvate to L-serine.
- Genetic Testing: This is the most common method used to diagnose PSPH deficiency. Genetic testing involves analyzing DNA samples from an individual or their family members to detect mutations in the PSPH gene [9]. Next-generation sequencing (NGS) and other advanced techniques can be employed to identify specific mutations associated with this condition.
- Urine or Blood Sample Analysis: A urine or blood sample can be used to check the level of metabolites present within an individual's body, which can help diagnose PSPH deficiency [5].
- Targeted Mutation Analysis: This involves analyzing a DNA sample for specific mutations in the PSPH gene that are associated with this condition [1].
Clinical Genetic Tests
Several clinical genetic tests are available to diagnose PSPH deficiency. These include:
- Amsterdam UMC, Location AMC: Offers targeted mutation analysis and other diagnostic testing for conditions related to PSPH deficiency [2].
- Intergen: Provides clinical genetic testing for conditions including phosphoserine phosphatase deficiency, which involves analyzing the PSPH gene [3].
Diagnostic Strengths
The strengths of these tests include:
- CAP accredited laboratory
- CLIA-certified personnel performing clinical testing in a CLIA- certified environment [6]
- Antenatal and post-natal diagnosis capabilities [7]
References:
[1] Context 1, 2, 3 [5] Context 5 [9] Context 9
Additional Diagnostic Tests
- Genetic Testing
- Urine or Blood Sample Analysis
- Targeted Mutation Analysis
Treatment
Treatment Options for PSPH Deficiency
PSPH (Phosphoserine Phosphatase) deficiency, also known as 3-phosphoserine phosphatase deficiency, is a rare genetic disorder that affects the synthesis of the amino acid L-serine. While there are no specific treatments available to cure this condition, various medications and therapies can help alleviate its symptoms.
Medications
- L-Serine Supplementation: Early treatment with L-serine supplementation has been used in some individuals to help manage the condition.
- Glycine Supplementation: Glycine supplementation with L-serine has also been employed in some cases, although more research is needed to confirm its effectiveness.
Other Therapies
- Antiparkinsonian Medications:
💊 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
Differential Diagnosis of PSPH Deficiency
PSPH deficiency, also known as phosphoserine phosphatase deficiency, is a rare genetic disorder caused by mutations in the PSPH gene. When considering differential diagnosis for this condition, several other disorders should be taken into account.
- Serine Biosynthesis Disorders: Other conditions that affect serine biosynthesis, such as 3-phosphoserine aminotransferase deficiency, can present with similar symptoms to PSPH deficiency.
- Microcephaly and Global Developmental Delay: Conditions like microcephaly and global developmental delay can also be associated with prenatal growth restriction and postnatal growth retardation, which are characteristic of PSPH deficiency.
- Intellectual Disability and Seizure Disorders: Intellectual disability and seizure disorders, such as epilepsy, can be part of the differential diagnosis for PSPH deficiency due to their association with cerebral atrophy and global developmental delay.
Key Features to Consider
When differentiating PSPH deficiency from other conditions, consider the following key features:
- Prenatal Growth Restriction: Prenatal growth restriction is a hallmark of PSPH deficiency.
- Postnatal Growth Retardation: Postnatal growth retardation and microcephaly are also characteristic of this condition.
- Seizures and Intellectual Disability: Seizures and intellectual disability can be part of the clinical presentation, but they are not unique to PSPH deficiency.
Genetic Testing
Genetic testing for mutations in the PSPH gene is essential for confirming a diagnosis of PSPH deficiency. This should be considered alongside other diagnostic tests, such as enzymatic assays and mutation analysis, to rule out other conditions with similar presentations.
References
- [1] Phosphoserine phosphatase deficiency (PSPHD) ... An autosomal recessive disorder that results in pre- and postnatal growth retardation, moderate psychomotor ...
- [3] by CE Hart · 2007 · Cited by 143 — The first two individuals with phosphoserine aminotransferase deficiency have been identified and described. This disorder is characterized biochemically by low ...
- [5] Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023]: An autosomal recessive disorder that results in pre- and postnatal growth retardation, moderate ...
Additional Differential Diagnoses
- Serine Biosynthesis Disorders
- Microcephaly and Global Developmental Delay
- Intellectual Disability and Seizure Disorders
Additional Information
- relatedICD
- http://example.org/icd10/E70.321
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_760
- owl#annotatedSource
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- oboInOwl#creation_date
- 2012-06-13T03:09:31Z
- oboInOwl#id
- DOID:0050724
- oboInOwl#hasDbXref
- MIM:614023
- IAO_0000115
- A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.
- oboInOwl#hasExactSynonym
- PSPHD
- core#notation
- DOID:0050724
- rdf-schema#label
- PSPH deficiency
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_0050721
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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