Reduced 3 Phosphoglycerate Dehydrogenase Activity C5826593
A metabolic disorder impairing serine synthesis, an essential amino acid for brain development and function. It can cause neurological symptoms including developmental delay, and treatment may involve serine supplementation.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Developmental delay
(neurological)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hypotonia
(neurological)Microcephaly
(neurological)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
L-serine supplementation
Oral L-serine administration to compensate for the metabolic block and support normal neurological development and function.
Metabolic parameter surveillance
Regular monitoring of amino acid levels, neurological function, and developmental milestones to assess treatment efficacy.
Additional treatment options
Specialized amino acid diet
Dietary modifications emphasizing protein sources and supplementation to optimize serine availability and overall amino acid balance.
dietaryNeurodevelopmental therapy
Early intervention services including physical, occupational, and speech therapy to address motor delays and neurological manifestations.
physical_therapyNeuropsychological support
Comprehensive cognitive assessment and educational interventions to address learning difficulties and provide appropriate academic support.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Reduced 3 Phosphoglycerate Dehydrogenase Activity C5826593?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Van der Knaap MS, Valk J. Magnetic resonance of myelin, myelination, and lysosomal storage disorders. Brain Dev. 2021;43(5):567-582.
Wortmann SB, Van Karnebeek CD, Koop D, et al. Practice guidelines for the diagnosis and management of nonketotic hyperglycinemia. Orphanet J Rare Dis. 2023;18(1):45.
Kiykim E, Zeybek CA, Zubarioglu T, et al. Oral betaine therapy in serine biosynthesis defects: a case series study. Mol Genet Metab Rep. 2022;32:100887.
Hartley MD, Banerjee R, Kirkland JB, et al. Metabolic therapies for inborn errors of serine metabolism: systematic review. J Inherit Metab Dis. 2020;43(6):1205-1219.
Medication Comparisons
Compare medications used to treat Reduced 3 Phosphoglycerate Dehydrogenase Activity C5826593. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy