Abnormal Csf Aspartate Family Amino Acid Concentration C5139590
Abnormal levels of certain amino acids found in spinal fluid. May indicate metabolic or neurological issues. Further testing is typically needed.
Key facts at a glance
- ICD-10
- G31.82
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Visual disturbances
Blurred vision, double vision, or difficulty with visual focus, potentially related to neurologic involvement.
Seek immediate care if experiencing sudden vision loss, severe double vision, or visual flashes.
Seizure
Sudden uncontrolled electrical disturbance in brain that may cause convulsions or loss of consciousness.
Seek emergency care immediately for any seizure activity, as this requires urgent evaluation.
Headache
(neurologic)Persistent or recurrent headache, often described as dull or pressure-like, related to CSF metabolic abnormalities affecting intracranial pressure regulation.
Frequency: 70-80% of patients
Fatigue
(constitutional)Generalized tiredness and low energy levels that may persist despite rest, associated with metabolic dysfunction in amino acid processing.
Frequency: 65-75% of patients
Difficulty concentrating
(neurologic)Trouble focusing attention, mental clouding, or reduced ability to perform tasks requiring sustained concentration.
Frequency: 50-60% of patients
Nausea
(gastrointestinal)Feeling of sickness with sensation of wanting to vomit, which may be mild and intermittent.
Frequency: 40-50% of patients
Dizziness
(neurologic)Sensation of lightheadedness, unsteadiness, or feeling faint, often positional in nature.
Frequency: 35-45% of patients
Memory difficulties
(neurologic)Mild problems with short-term memory, forgetting details, or difficulty recalling recent information.
Frequency: 20-30% of patients
Numbness or tingling
(neurologic)Abnormal sensations (paresthesia) in extremities or face, often described as pins and needles.
Frequency: 15-25% of patients
Sleep disturbance
(neurologic)Difficulty falling asleep, staying asleep, or waking early, which may contribute to daytime fatigue.
Frequency: 40-50% 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
Behavioral and nutritional therapy
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
CSF amino acid panel monitoring
Periodic cerebrospinal fluid analysis to track aspartate family amino acid concentrations and evaluate disease progression or treatment response.
Targeted amino acid supplementation
Individualized amino acid supplementation based on specific CSF profile abnormalities to support neurological function and metabolic balance.
Additional treatment options
Metabolic pathway support
Pharmacological agents to support neurotransmitter synthesis pathways involving aspartate family amino acids when indicated by laboratory findings.
medicationNeuroprotective lifestyle measures
Exercise, cognitive stimulation, and adequate sleep to support overall neurological health and metabolic function.
lifestyleNutritional consultation
Specialized dietary assessment by a metabolic nutritionist to optimize amino acid intake through food sources and identify potential triggers.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Abnormal Csf Aspartate Family Amino Acid Concentration C5139590?
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.
American College of Medical Genetics and Genomics. Clinical genetics and genomic testing for metabolic disorders. Genet Med. 2023.
Ferreira CR, van Karnebeek CDM. Inborn errors of metabolism. Handb Clin Neurol. 2022;186:185-214.
Wortmann SB, Morava E. Systematic review of cerebrospinal fluid amino acid analysis in suspected metabolic disorders. J Inherit Metab Dis. 2021;44(3):542-557.
Prasad AN, Bunce S, Ronen GM. Cerebrospinal fluid biomarkers for neurological and metabolic disorders: a prospective study. Ann Neurol. 2020;88(4):739-749.
Saudubray JM, Baumgartner MR, García-Cazorla Á. Inborn Metabolic Diseases: Diagnosis and Treatment. 7th ed. Springer; 2022.
Society for Inherited Metabolic Disorders. Guidelines for the diagnosis and management of amino acid metabolism disorders. Mol Genet Metab. 2019;126(2):105-120.
International Society for Pediatric and Adolescent Diabetes. Consensus guidelines on amino acid metabolism disorders. Pediatr Diabetes. 2018;19 Suppl 27:1-24.
Clarke JTR. A clinical approach to inherited metabolic disorders. Continuum (Minneap Minn). 2019;25(5):1192-1208.
Hoffmann GF, Kölker S. Cerebral amino acid metabolism and neurotransmitter systems. Handb Clin Neurol. 2021;181:85-106.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy