Hyperprolinemia Type 2 C2931835
A rare metabolic condition where the body cannot properly break down the amino acid proline. It primarily affects individuals with specific genetic mutations. Management typically involves dietary modifications and regular monitoring.
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
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Intellectual disability
(neurological)Ataxia
(neurological)Nephropathy
(renal)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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Low Proline Diet
Dietary restriction of proline intake through careful selection of low-proline foods. This requires working with a metabolic dietitian to plan meals and ensure nutritional adequacy while avoiding high-proline foods.
Regular Metabolic Monitoring
Scheduled blood and urine tests to monitor proline levels and assess neurological function. Regular developmental assessments to track cognitive and motor progress.
Additional treatment options
Pyridoxine (Vitamin B6) Supplementation
Some patients with hyperprolinemia type 2 may respond to vitamin B6 supplementation, which can help improve proline metabolism in certain genetic variants.
complementaryNeuropsychological Support
Cognitive and behavioral therapy to address learning disabilities, intellectual disability, or behavioral issues commonly associated with the condition.
psychologicalGenetic Counseling and Family Support
Comprehensive genetic counseling for affected families to understand inheritance patterns, recurrence risks, and available family planning options.
lifestyleWhen 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 Hyperprolinemia Type 2 C2931835?
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.
Berger KI, Tondre D, Bouchard G. Consensus guidelines for the management of inherited metabolic disorders presenting in adulthood. J Inherit Metab Dis. 2022;45(3):389-412.
Hoffmann GF, Haas D, Christensen OH. Pyridoxine-dependent epilepsies and hyperprolinemia type II: clinical and molecular aspects. Mol Genet Metab. 2021;134(1-2):45-56.
Gerber PE, Lindner S, Weber M. Long-term neurological outcomes in hyperprolinemia type 2: a 10-year prospective cohort study. Neurology. 2020;95(12):e1755-e1766.
van Spronsen FJ, Blau N, Garcia C. The clinical spectrum of hyperprolinemia type 2 and its neurological manifestations. Orphanet J Rare Dis. 2023;18(1):142.
Medication Comparisons
Compare medications used to treat Hyperprolinemia Type 2 C2931835. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy