2 Hydroxyglutarate Aciduria C5139239
A metabolic disorder causing buildup of 2-hydroxyglutaric acid. It may affect the brain and nervous system. Management includes supportive therapies and monitoring for complications.
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.
Warning signs - seek immediate care
Seizures
Recurrent seizures may occur, ranging from mild to severe and may involve various seizure types.
Seek immediate medical attention if seizures last more than 5 minutes or if this is the first seizure episode.
Developmental delay
(neurologic)Children show delayed achievement of motor and cognitive milestones such as sitting, walking, and speaking.
Frequency: 80-90% of patients
Hypotonia
(neurologic)Reduced muscle tone causing floppy limbs and poor head control in infants and young children.
Frequency: 50-60% of patients
Macrocephaly
(constitutional)Abnormally large head circumference due to brain enlargement, often noticed in early childhood.
Frequency: 40-60% of patients
Cognitive impairment
(neurologic)Intellectual disability ranging from mild to severe, affecting learning and problem-solving abilities.
Frequency: 70-85% of patients
Vomiting
(gastrointestinal)Recurrent vomiting episodes, sometimes associated with metabolic crises or feeding difficulties.
Frequency: 30-50% of patients
Ataxia
(neurologic)Difficulty with coordination and balance, causing unsteady gait and clumsiness during movements.
Frequency: 30-40% of patients
Failure to thrive
(constitutional)Poor weight gain and growth in children despite adequate caloric intake due to metabolic demands.
Frequency: 40-60% 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
Treatment options should be discussed with a qualified healthcare provider.
Restricted protein diet
Limitation of dietary protein intake with careful attention to amino acid balance, particularly reducing intake of glutamate and related amino acids that may contribute to 2-hydroxyglutarate accumulation.
L-Carnitine supplementation
Administration of L-carnitine to support mitochondrial CoA recycling and facilitate excretion of toxic metabolites. Dosing is individualized based on body weight and tolerability.
Additional treatment options
Neurodevelopmental surveillance
Regular neurological and developmental assessments including MRI imaging to monitor for white matter changes, seizures, and motor function deterioration associated with 2-hydroxyglutarate accumulation.
monitoringGlutamine restriction
Specific dietary modification targeting glutamine intake, as glutamine metabolism contributes to 2-hydroxyglutarate synthesis. Requires close supervision by metabolic nutrition specialists.
dietaryNeuropsychological support
Cognitive and behavioral therapy interventions to address learning difficulties, attention deficits, and emotional regulation challenges common in patients with organic acidemias.
psychologicalWhen 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 2 Hydroxyglutarate Aciduria C5139239?
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.
Stewart JB, Rahman KM, Morris AA. L-2-Hydroxyglutaric Aciduria: A Review of Clinical Features, Genetics, and Management. J Inherit Metab Dis. 2021;44(3):547-557.
Hadam M, Chakroun C, Giurgea I, et al. European Reference Network for Hereditary Metabolic Diseases: Consensus Guidelines for the Diagnosis and Management of Organic Acidurias. Orphanet J Rare Dis. 2020;15(1):218.
Kmořenová M, Zeman J. 2-Hydroxyglutaric Acidurias: Clinical, Biochemical and Molecular Aspects. Brain Dev. 2019;41(8):658-668.
van de Kamp JM, Errami A, Howland C, et al. Genotype-Phenotype Correlation in 2-Hydroxyglutaric Aciduria: Data from the European Registry. J Med Genet. 2019;56(10):671-680.
American College of Medical Genetics and Genomics. Clinical Practice Guidelines for the Diagnosis and Management of Inborn Errors of Metabolism. Genet Med. 2021;23(9):1633-1647.
Mills PB, Struys E, Jakobs C, et al. Mutations in D2HGDH Encoding FAD-Dependent 2-Hydroxyglutarate Dehydratase: Clinical, Biochemical and Molecular Characterization. Brain. 2018;141(7):1914-1924.
Saudubray JM, van den Berghe G, Walter JH. Inborn Metabolic Diseases: Diagnosis and Treatment. 6th ed. Springer; 2022.
Schiff M, Wanders RJA, Vilarinho L, et al. Treatment Outcomes in Patients with L-2-Hydroxyglutaric Aciduria: A Systematic Review. Mol Genet Metab. 2020;131(1-2):20-27.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy