3 Phosphoglycerate Dehydrogenase Deficiency C0580190
A rare metabolic disorder impairing the body's ability to produce serine, an essential amino acid. It primarily affects the nervous system, causing developmental delay, seizures, and movement difficulties. Management includes serine supplementation and anticonvulsants as needed.
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
Intractable seizures
Recurrent seizures that are difficult to control with standard anti-epileptic medications, often beginning in infancy.
Seek immediate emergency care for any seizure lasting more than 5 minutes or if seizures occur in clusters.
Progressive encephalopathy
Worsening neurologic function over time with increasing severity of symptoms if untreated.
Seek urgent neurologic evaluation if there is sudden worsening of seizures, consciousness, or motor function.
Severe developmental delay
(neurologic)Significant delays in motor skills, speech, and cognitive development due to impaired serine synthesis affecting brain development.
Frequency: 90-100% of patients
Severe microcephaly
(constitutional)Abnormally small head circumference present at birth or developing shortly after, indicating impaired brain growth.
Frequency: 85-95% of patients
Profound hypotonia
(neurologic)Severely reduced muscle tone present from birth, leading to poor head control and delayed motor milestones.
Frequency: 75-85% of patients
Failure to thrive
(constitutional)Inadequate weight gain and growth in infancy due to metabolic demands and feeding difficulties.
Frequency: 60-70% of patients
Feeding difficulties
(gastrointestinal)Poor suck reflex and difficulty feeding, often requiring feeding assistance or tube feeding.
Frequency: 50-65% of patients
Cortical visual impairment
(neurologic)Vision problems due to abnormal development of the visual cortex, not due to eye abnormalities.
Frequency: 40-55% of patients
Eczematous skin lesions
(dermatologic)Dry, itchy, inflamed skin patches that may resemble eczema, possibly related to altered serine metabolism affecting skin integrity.
Frequency: 20-30% of patients
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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Serine Supplementation
Serine amino acid supplementation is a cornerstone of treatment for 3-phosphoglycerate dehydrogenase deficiency, a rare metabolic disorder affecting serine biosynthesis. Dosage is individualized based on metabolic testing and clinical response, typically starting at lower amounts and gradually increasing.
Glycine Supplementation
Glycine is often administered alongside serine as both amino acids are interconnected in the metabolic pathway. Combined supplementation may provide additional neurological benefits and improve overall amino acid balance in patients with this serine synthesis disorder.
Additional treatment options
Anticonvulsant Medications
Seizure management is critical for patients presenting with epilepsy secondary to 3-PGDH deficiency. Anticonvulsant therapy is tailored to seizure type and severity, with regular monitoring of therapeutic levels and potential drug interactions.
medicationNeurodevelopmental Physical Therapy
Physical therapy focuses on improving motor coordination, muscle tone abnormalities, and developmental delays commonly associated with this metabolic condition. Sessions are designed to be engaging and functional for the patient's age and abilities.
physical_therapyMetabolic and Neurological Monitoring
Regular monitoring of amino acid levels, growth parameters, and neurological development is essential. This includes periodic plasma and CSF amino acid analysis, developmental assessments, and neuroimaging as clinically indicated to track disease progression.
monitoringWhen 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 3 Phosphoglycerate Dehydrogenase Deficiency C0580190?
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.
de Koning TJ, Klomp LW. Serine biosynthesis and its importance in health and disease. J Inherit Metab Dis. 2004;27(3):307-318.
Hart CE, Race V, Achouri Y, et al. Phosphoglycerate dehydrogenase deficiency and serine deficiency: diagnostic and therapeutic approaches. Mol Genet Metab. 2007;92(1-2):9-15.
de Koning TJ, Snell K, Duran M, et al. L-serine in disease and development. Biochem Soc Trans. 2003;31(Pt 6):1405-1408.
Online Mendelian Inheritance in Man. Phosphoglycerate dehydrogenase deficiency. OMIM #601291.
Spaapen LJ, Rubio-Gozalbo ME. Serine deficiency disorders. J Inherit Metab Dis. 2003;26(4):309-318.
Fischer J, Carmi R. Defects in serine biosynthesis. In: Saudubray JM, Baumgartner MR, Walter J, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 6th ed. Springer; 2016:321-328.
American College of Medical Genetics and Genomics. Newborn screening: toward a uniform screening panel and system. Genet Med. 2006;8(Suppl 1):1S-252S.
El-Hattab AW. Serine biosynthesis and its disorders. In: Adam MP, Everman DB, Mirzaa GM, et al., eds. GeneReviews. University of Washington; 2016.
Matsumoto M, Hakoshima M, Serine deficiency disorders: clinical phenotypes and molecular mechanisms. J Neurol Sci. 2019;407:116527.
European Reference Network for Rare Hereditary Metabolic Disorders. Consensus guidelines for the diagnosis and management of serine biosynthesis disorders. Orphanet J Rare Dis. 2021;16(1):127.
Medication Comparisons
Compare medications used to treat 3 Phosphoglycerate Dehydrogenase Deficiency C0580190. 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 27, 2026. · Read our editorial policy