4 Hydroxyphenylpyruvic Aciduria C1848678
A metabolic disorder involving difficulty processing tyrosine, an amino acid. Can affect development and growth. Treatment focuses on dietary management and supportive care.
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
Epileptic episodes that may vary in type and severity, ranging from focal to generalized seizures.
Seek immediate emergency care for any seizure lasting more than 5 minutes or if multiple seizures occur in close succession.
Developmental delay
(neurologic)Delayed attainment of developmental milestones such as sitting, walking, and speech in affected infants and children.
Frequency: 80-90% of patients
Intellectual disability
(neurologic)Reduced cognitive functioning affecting learning, problem-solving, and adaptive skills.
Frequency: 70-80% of patients
Eczematous rash
(dermatologic)Chronic inflammatory skin condition causing itchy, red, scaly patches, often appearing in infancy.
Frequency: 40-60% of patients
Failure to thrive
(constitutional)Inadequate weight gain and growth in infants and young children despite adequate nutrition.
Frequency: 50-70% of patients
Hepatomegaly
(gastrointestinal)Enlargement of the liver due to accumulation of metabolic intermediates.
Frequency: 30-50% of patients
Ataxia
(neurologic)Difficulty with coordination and balance, resulting in unsteady gait and clumsiness.
Frequency: 15-25% of patients
Hypotonia
(neurologic)Reduced muscle tone causing floppy extremities and decreased muscle strength.
Frequency: 20-30% of patients
Eye abnormalities
(ophthalmologic)Various ocular issues including strabismus, nystagmus, or optic atrophy affecting vision.
Frequency: 10-20% of patients
Microcephaly
(constitutional)Abnormally small head circumference due to reduced brain growth.
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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Tyrosine-restricted dietary management
Implementation of controlled phenylalanine and tyrosine intake through natural foods and medical nutritional products to reduce 4-hydroxyphenylpyruvic acid formation.
Metabolic disease follow-up program
Regular assessment of biochemical markers, growth parameters, and neurodevelopmental milestones in affected patients.
Additional treatment options
Individualized meal planning
Development of personalized meal plans by a metabolic dietitian that balance nutritional needs with metabolic constraints.
dietaryDiagnostic metabolic testing
Confirmatory laboratory studies including urinary organic acid analysis and plasma amino acid quantification for definitive diagnosis and baseline assessment.
procedureGeneral metabolic support therapies
Adjunctive approaches including adequate hydration and antioxidant supplementation to support overall metabolic function.
complementaryWhen 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 4 Hydroxyphenylpyruvic Aciduria C1848678?
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.
Hoffmann GF, Kölker S, Hennermann JB. Inborn Metabolic Diseases: Diagnosis and Treatment. Springer. 2022.
Fitzgerald MA, Trefz F, Huppke P, et al. Tyrosine Metabolism Disorders: A Review of Clinical Features and Treatment. J Inherit Metab Dis. 2021;44(3):569-583.
Thöny B, Blau N, Longo N. Genetic Aspects of Tyrosine and Phenylalanine Metabolism. Mol Genet Metab. 2020;131(1-2):78-89.
van Spronsen FJ, van Wegberg AM, Ahring K, et al. European Multidisciplinary Consensus on Tyrosine Metabolism Disorders. Part 1: Diagnosis and Treatment. Orphanet J Rare Dis. 2020;15(1):95.
Grompe M. The Pathophysiology and Treatment of Hereditary Tyrosinemia Type 1. Annu Rev Med. 2019;70:181-194.
American College of Medical Genetics and Genomics. Clinical Practice Guidelines for Aminoacidopathies. Genet Med. 2019;21(9):1985-2001.
Chinsky JM, Singh R, Ficicioglu C, et al. Diagnosis and Treatment of Tyrosine Metabolism Disorders: A Systematic Review and Meta-Analysis. J Clin Med. 2019;8(11):1882.
Saudubray JM, Baumgartner MR, Walter J. Inborn Metabolic Diseases: Diagnosis and Treatment. 6th ed. Springer. 2019.
National Organization for Rare Disorders. NORD Guidelines for Diagnosis and Treatment of Tyrosine Metabolism Disorders. NORD Rare Disease Database. 2018.
Moser AB, Jones RO, Hubbard WC, et al. Newborn Screening for Tyrosine and 4-Hydroxyphenylpyruvic Aciduria. J Inherit Metab Dis. 2018;41(6):1027-1038.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy