Glutaric Aciduria Type 1 C0268595
An organic acid disorder that disrupts the body's ability to break down certain amino acids, causing acids to build up. Early detection through newborn screening allows dietary restriction that may prevent neurological damage.
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
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Macrocephaly
(metabolic)Dystonia
(metabolic)Optic atrophy
(metabolic)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
Lysine-Restricted Diet
A specialized diet limiting lysine and tryptophan intake, as these amino acids are metabolized through the affected pathway. Dietary management should begin immediately after diagnosis to prevent neurological damage.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Emergency Crisis Management Protocol
Aggressive intervention during metabolic crises with IV glucose, increased caloric intake, and potentially carnitine supplementation to prevent catabolism and accumulation of toxic metabolites.
Additional treatment options
L-Carnitine Supplementation
Carnitine supplementation to support mitochondrial function and help remove toxic metabolites that accumulate due to the enzymatic deficiency.
medicationDystonia Management Physical Therapy
Specialized physical therapy to manage movement disorders including dystonia and dyskinesia, focusing on posture, balance, and functional movement patterns.
physical_therapyMetabolic and Neurological Monitoring
Regular monitoring of plasma and urine glutaric acid levels, developmental milestones, and neurological status to adjust treatment and prevent complications.
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 Glutaric Aciduria Type 1 C0268595?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Glutaric Aciduria Type 1 C0268595. 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 20, 2026. · Read our editorial policy