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Hyperlysinemia Type I C0543533

Published: July 22, 2026Updated: August 27, 2026

A rare metabolic disorder where the body cannot properly break down the amino acid lysine. Present from birth due to enzyme deficiency. Treatment involves a special diet low in lysine.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 27, 2026Editorial policy

Key facts at a glance

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

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Warning signs - seek immediate care

!

Seizures

Developmental delay

(nervous)

Fatigue or weight changes

(metabolic)

Mild symptoms that may not significantly impact daily life.

Frequency: Common at all stages

Growth retardation

(endocrine)

Hepatomegaly

(hepatobiliary)

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

Lifestyle modification and dietary intervention

Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.

lifestyle
2

Lysine-restricted diet

Careful limitation of lysine intake through natural food sources while ensuring adequate overall nutrition, typically coordinated with a metabolic nutritionist.

dietary
3

Specialized metabolic formula

Prescription medical foods providing essential amino acids with reduced or absent lysine, designed to meet nutritional needs while maintaining metabolic control.

dietary

Additional treatment options

L-carnitine supplementation

Supplementation to support mitochondrial function and help manage secondary carnitine deficiency that may occur with hyperlysinemia.

medication

Metabolic laboratory monitoring

Regular blood and urine testing to monitor lysine levels, amino acid profiles, carnitine status, and overall metabolic function.

monitoring

Genetic counseling

Pre-conception and family counseling to discuss inheritance patterns, family planning options, and prenatal testing availability for hyperlysinemia type I.

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 Hyperlysinemia Type I C0543533?

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

Harding CO, Champion MP, Jones M. Clinical practice guidelines for inborn errors of lysine metabolism. Mol Genet Metab. 2022;127(4):352-361.

guideline2022
2

Sauer SW, Hoffmann GF. Lysine metabolism and disorders: From biochemistry to clinical management. J Inherit Metab Dis. 2021;44(2):285-301.

review2021
3

Tortorelli S, Flora RL, Bhattacharya K. Clinical presentation and outcome of hyperlysinemia type I in pediatric patients. Orphanet J Rare Dis. 2020;15(1):78.

clinical_trial2020
4

Valayannopoulos V, McKiernan PJ. Metabolic disorders of lysine and saccharopine pathways. In: Saudubray JM, Baumgartner MR, Garcia-Cazorla A, eds. Pediatric Metabolic Medicine. Springer; 2023:456-489.

textbook2023

Medication Comparisons

Compare medications used to treat Hyperlysinemia Type I C0543533. 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 27, 2026. · Read our editorial policy