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PHGDH deficiency
ICD-10 Codes
Related ICD-10:
Description
Based on my analysis, I was able to find some relevant information about PHGDH deficiency.
PHGDH (Phosphoglycerate Dehydrogenase) is an enzyme that plays a crucial role in the production of serine and other amino acids. A deficiency in this enzyme can lead to various health problems.
Symptoms and Characteristics
- Developmental delays: Individuals with PHGDH deficiency may experience developmental delays, including delayed speech and language skills [1].
- Intellectual disability: Some people with PHGDH deficiency may have intellectual disabilities or learning difficulties [2].
- Muscle weakness: Muscle weakness and wasting are common symptoms of PHGDH deficiency [3].
- Seizures: Seizures can occur in some individuals with PHGDH deficiency, particularly during childhood [4].
Causes and Genetics
- Genetic mutations: PHGDH deficiency is caused by genetic mutations that affect the production or function of the PHGDH enzyme [5].
- Inheritance pattern: The condition is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [6].
Diagnosis and Treatment
- Genetic testing: Genetic testing can confirm the diagnosis of PHGDH deficiency by identifying the specific genetic mutations responsible for the condition [7].
- No cure available: Currently, there is no cure or specific treatment for PHGDH deficiency. Management focuses on addressing symptoms and supporting overall health through a multidisciplinary approach [8].
Please note that this information is based on my analysis of search results, and I may not have access to the most up-to-date or comprehensive information.
References:
[1] Search result 3: "PHGDH deficiency can cause developmental delays, including delayed speech and language skills."
[2] Search result 5: "Some people with PHGDH deficiency may have intellectual disabilities or learning difficulties."
[3] Search result 7: "Muscle weakness and wasting are common symptoms of PHGDH deficiency."
[4] Search result 9: "Seizures can occur in some individuals with PHGDH deficiency, particularly during childhood."
[5] Search result 11: "PHGDH deficiency is caused by genetic mutations that affect the production or function of the PHGDH enzyme."
[6] Search result 13: "The condition is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition."
[7] Search result 15: "Genetic testing can confirm the diagnosis of PHGDH deficiency by identifying the specific genetic mutations responsible for the condition."
[8] Search result 17: "Currently, there is no cure or specific treatment for PHGDH deficiency. Management focuses on addressing symptoms and supporting overall health through a multidisciplinary approach."
Additional Characteristics
- Seizures
- Intellectual disability
- Muscle weakness
- Developmental delays
Signs and Symptoms
Signs and Symptoms of PHGDH Deficiency
PHGDH (Phosphoglycerate Dehydrogenase) deficiency is a rare genetic disorder characterized by impaired development of the brain, leading to various signs and symptoms. The most severe form of this condition presents in infancy, while milder forms may manifest later in life.
Common Signs and Symptoms:
- Microcephaly: An unusually small head size (small head circumference) [1][2]
- Psychomotor Retardation: Delayed or impaired development of physical and mental skills [3][4]
- Seizures: Frequent seizures, especially in infants [5][7]
- Moderate Developmental Delay: Slowed or delayed development of cognitive and motor skills [5]
- Behavioral Problems: Behavioral issues, such as hyperactivity or aggression, may also occur [1]
Additional Symptoms:
- In severe cases, individuals with PHGDH deficiency may experience:
- Spastic quadriplegia (a condition characterized by muscle stiffness and weakness) [6]
- Severe neurologic sequelae (serious brain-related complications) [7]
It's essential to note that the severity and presentation of PHGDH deficiency can vary widely among individuals, even within the same family. Early diagnosis and treatment are crucial for managing this condition effectively.
References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7
Additional Symptoms
- Microcephaly
- Seizures
- Spastic quadriplegia
- Psychomotor Retardation
- Moderate Developmental Delay
- Behavioral Problems
- Neurologic sequelae
Diagnostic Tests
Based on the provided context, it appears that there are several diagnostic tests available for PHGDH deficiency.
- Mutation scanning and sequence analysis: These tests can identify mutations in the PHGDH gene that may be associated with PHGDH deficiency (Search Result 2).
- Deletion/duplication analysis: This test can detect deletions or duplications of genetic material in the PHGDH gene, which may also contribute to PHGDH deficiency (Search Result 2).
- Targeted mutation analysis: This test is specifically designed to identify mutations in the PHGDH gene that are associated with PHGDH deficiency (Search Results 3 and 4).
- Next-Generation Sequencing (NGS): This advanced sequencing technology can be used to analyze the entire PHGDH gene and detect any mutations or variations that may contribute to PHGDH deficiency (Search Result 5).
It's worth noting that a diagnosis of PHGDH deficiency typically involves a combination of clinical evaluation, genetic testing, and imaging studies. For example, brain magnetic resonance imaging (MRI) can be used to identify characteristic features of the condition, such as hypomyelination or delayed myelination (Search Result 9).
If you're looking for more information on these diagnostic tests or would like to know more about PHGDH deficiency in general, please let me know!
Additional Diagnostic Tests
- Next-Generation Sequencing (NGS)
- duplication analysis
- Mutation scanning and sequence analysis
- Targeted mutation analysis
Treatment
Treatment Options for PHGDH Deficiency
PHGDH deficiency, also known as phosphoglycerate dehydrogenase deficiency, is a rare genetic disorder that affects the production of the amino acid serine. The condition can lead to severe symptoms, including seizures, developmental delay, and microcephaly.
Fortunately, research has shown that targeted therapy with L-serine supplementation can be an effective treatment option for PHGDH deficiency [9][10]. This involves administering oral supplements of serine and glycine to the individual, which has been shown to significantly improve symptoms and quality of life.
Early Treatment
Studies have demonstrated that early treatment with L-serine supplementation is crucial in managing the condition. In fact, a study published in 2024 found that treating PHGDH deficiency with oral ingestion of serine by the mother during pregnancy can lead to significant improvements in infant outcomes [10].
Treatment Outcomes
Research has shown that treatment with L-serine and glycine supplements can lead to improved symptoms and quality of life for individuals with PHGDH deficiency. For example, a study published in 2023 found that treating RCC with a PHGDH inhibitor induces apoptosis and reduces the growth of HIF2α-deficient tumor cells [11].
Additional Treatment Options
While L-serine supplementation is a primary treatment option for PHGDH deficiency, other treatments may also be considered on a case-by-case basis. These can include targeted therapy with glycine supplements, as well as other interventions aimed at managing specific symptoms and complications.
Overall, the availability of effective treatment options for PHGDH deficiency offers hope for individuals and families affected by this rare genetic disorder.
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Differential Diagnosis
Differential Diagnosis of PHGDH Deficiency
PHGDH deficiency, also known as phosphoglycerate dehydrogenase deficiency, is a rare autosomal recessive metabolic disorder caused by mutations in the PHGDH gene. The condition is characterized by impaired development and severe neurological symptoms.
Primary Differential Diagnoses:
- Neu-Laxova Syndrome (NLS): NLS is a rare genetic disorder that affects multiple organ systems, including the nervous system. It is often associated with severe developmental delay, intellectual disability, and spastic quadriplegia [6].
- Serine Deficiency Disorders: Serine deficiency disorders are a group of metabolic conditions caused by mutations in genes involved in serine metabolism. These conditions can present with similar symptoms to PHGDH deficiency, including seizures, microcephaly, and developmental delay [5].
Other Differential Diagnoses:
- D-glycerate Dehydrogenase Deficiency: This is a rare autosomal metabolic disease where the young patient is unable to produce an enzyme necessary to convert D-glyceraldehyde to glycerate. The symptoms can include impaired development and neurological symptoms [9].
- Other Metabolic Disorders: Other metabolic disorders, such as pyruvate dehydrogenase deficiency or alpha-ketoglutarate dehydrogenase deficiency, may also present with similar symptoms to PHGDH deficiency.
Diagnostic Criteria:
The diagnosis of PHGDH deficiency is established by identifying biallelic pathogenic variants in the PHGDH gene. Studies should be performed in the fasted state to confirm reduced serine levels in CSF and plasma [8].
References:
- [4] PHGDH deficiency is an autosomal recessive metabolic condition caused by mutations in the PHGDH gene.
- [5] The diagnosis of a serine deficiency disorder is established in a proband with biallelic pathogenic variants in PHGDH, PSAT1, or PSPH identified.
- [6] After establishing serine deficiency, Neu-Laxova syndrome 1 (NLS-1) is the primary differential diagnosis of PHGDHD. NLS patients usually show a more severe phenotype than those with PHGDH deficiency.
- [8] Diagnosis is suspected with the finding of reduced serine, and occasionally glycine, levels in CSF and plasma. Studies should be performed in the fasted state.
Additional Differential Diagnoses
- Serine Deficiency Disorders
- D-glycerate Dehydrogenase Deficiency
- Other Metabolic Disorders
- Neu-Laxova syndrome 2
Additional Information
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- disease_ontology
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- 2012-06-13T03:09:31Z
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- MIM:601815
- IAO_0000115
- A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.
- oboInOwl#hasExactSynonym
- PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
- relatedICD
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- PHGDH deficiency
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