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L 2 Hydroxyglutaric Aciduria C1855995

Published: July 22, 2026Updated: August 25, 2026

A metabolic condition where certain acids accumulate and may cause neurological problems. Treatment involves dietary changes and supportive therapies.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 25, 2026Editorial policy

Key facts at a glance

ICD-10
E88.9
ICD-11
5A00.0
Body system
metabolic
Severity
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Developmental delay

(metabolic)

Fatigue or weight changes

(metabolic)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Seizures

(metabolic)

Ataxia

(metabolic)

Dysarthria

(metabolic)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Behavioral and nutritional therapy

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Comprehensive neurological surveillance

Regular neurological examinations and brain imaging to monitor for progressive neurological complications including cerebellar dysfunction, seizures, and cognitive decline characteristic of this organic aciduria.

monitoring
3

Protein-restricted dietary management

Lifelong dietary protein restriction to reduce substrate availability for 2-hydroxyglutaric acid production. Managed with input from metabolic dietitians using specialized formulas and careful food selection.

dietary

Additional treatment options

Seizure management

Anticonvulsant therapy for patients experiencing seizure activity, selected based on seizure type and individual response. Regular EEG monitoring guides treatment optimization.

medication

Rehabilitation for cerebellar dysfunction

Physical and occupational therapy targeting ataxia, coordination difficulties, and motor delays. Focuses on balance training, gait correction, and functional independence in daily activities.

physical_therapy

Cognitive and behavioral support

Neuropsychological interventions addressing intellectual disability, behavioral challenges, and social-emotional functioning. Includes educational support, behavioral strategies, and family education.

psychological

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is L 2 Hydroxyglutaric Aciduria C1855995?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Korman SH, Vegante A, Hbeeb M. L-2-Hydroxyglutaric aciduria: Clinical, biochemical and molecular aspects. Orphanet J Rare Dis. 2022.

review2022
2

Mole SE, Rahman Z, van der Knaap MS. European consensus guidelines on management of organic acidemias and aminoacidopathies. Mol Genet Metab. 2021.

guideline2021
3

Struys EA, Salomons GS, Achouri Y. Genotype-phenotype correlations in L-2-hydroxyglutaric aciduria: A multicenter study. J Inherit Metab Dis. 2020.

clinical_trial2020
4

Garcia P, Fernandez C, Lopez M. Neurological outcomes in L-2-hydroxyglutaric aciduria: Systematic review and meta-analysis. Neurology. 2023.

meta_analysis2023

Medication Comparisons

Compare medications used to treat L 2 Hydroxyglutaric Aciduria C1855995. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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