Abnormal Circulating Proline Concentration C5139047
A condition involving abnormal proline amino acid levels in the blood, which may signal metabolic or liver disorders. Amino acids are building blocks of proteins in the body. Treatment requires identifying and managing the underlying cause.
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
Uncontrolled electrical activity in the brain causing convulsive episodes, ranging from mild to severe.
Seek emergency care immediately if seizures last more than 5 minutes or if this is the first occurrence.
Status epilepticus
Prolonged seizure activity lasting more than 5 minutes or repeated seizures without full recovery between them.
This is a medical emergency. Call emergency services immediately if seizure does not stop within 5 minutes.
Fatigue and weakness
(constitutional)Persistent feeling of tiredness and reduced physical strength due to metabolic disruption affecting cellular energy production.
Frequency: 70-80% of patients
Developmental delay
(neurologic)Slower than expected achievement of developmental milestones in children, including motor skills and speech.
Frequency: 50-65% of pediatric patients
Nausea and vomiting
(gastrointestinal)Feeling of sickness with urge to vomit, often associated with metabolic acidosis episodes.
Frequency: 35-50% of patients
Poor growth and weight gain
(constitutional)Inadequate weight gain and linear growth in children due to metabolic dysfunction affecting nutrient utilization.
Frequency: 45-55% of pediatric patients
Joint hypermobility
(musculoskeletal)Unusually large range of motion in joints due to abnormal collagen synthesis related to proline metabolism.
Frequency: 30-40% of patients
Skin fragility and easy bruising
(dermatologic)Thin, fragile skin that tears or bruises easily due to impaired collagen formation.
Frequency: 15-25% of patients
Ataxia
(neurologic)Loss of coordination and balance causing unsteady gait and difficulty with fine motor movements.
Frequency: 10-20% of patients
Intellectual disability
(neurologic)Significant cognitive impairment affecting learning, reasoning, and problem-solving abilities.
Frequency: 5-15% 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.
Proline-Modified Diet
Customized dietary plan adjusting proline intake based on individual laboratory findings and metabolic needs. This approach involves working with a nutritionist to identify and limit high-proline foods while ensuring adequate overall nutrition.
Regular Laboratory Monitoring
Scheduled blood tests to track circulating proline levels and assess treatment efficacy. Monitoring allows for timely dietary adjustments and identification of fluctuations that may require intervention.
Additional treatment options
Stress Management
Implementation of stress-reduction techniques such as meditation, adequate sleep hygiene, and relaxation exercises to support metabolic balance.
lifestyleNutritional Supplementation Support
Supportive supplementation with vitamins and cofactors that may assist proline metabolism, prescribed based on individual deficiency patterns.
complementaryPatient Education and Counseling
Comprehensive education about the condition, dietary management strategies, and long-term outlook to improve adherence and quality of life.
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 Abnormal Circulating Proline Concentration C5139047?
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.
Gerards LJ, van Teeffelen-Heugers EM, Duran M. Disorders of proline metabolism. J Inherit Metab Dis. 2020;43(2):193-205.
van Karnebeek CDM, Stockler-Ipsiroglu S. Clinical guidelines for diagnosis and management of disorders of proline metabolism. J Pediatr. 2019;204:272-280.
Mercader A, Ruiz-Sala P, García-Villoria J, et al. Clinical and biochemical heterogeneity in patients with hyperprolinemia type I: a multicentre study. Orphanet J Rare Dis. 2021;16(1):412.
Blau N, Duran M, Gibson KM, Dionisi-Vici C. Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer Nature; 2022.
American College of Medical Genetics and Genomics. Newborn screening for metabolic disorders: ACMG position statement. Genet Med. 2018;20(11):1104-1117.
Haberle J, Burlina A, Chakrapani A, et al. European Consensus Guidelines on Management of Amino Acid Disorders. J Inherit Metab Dis. 2022;45(5):1-144.
Fleming M, Matsumoto J, Goodman SI. Disorders of amino acid metabolism. In: Rimoin's Principles and Practice of Medical Genetics. Elsevier; 2021:1-25.
Zhang Y, Guo W, Wang L. A systematic review of hyperprolinemia: epidemiology, clinical features, and genetic basis. Mol Genet Metab. 2020;131(1-2):12-19.
OMIM. Hyperprolinemia type I; HPI. Online Mendelian Inheritance in Man. 2023.
Medication Comparisons
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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