4 Hydroxyphenyllactic Aciduria C1848679
A metabolic condition affecting how the body processes amino acids. Usually identified in early life. Managed through specialized diet and regular medical follow-up.
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
Recurrent seizure episodes caused by abnormal electrical activity in the brain.
Seek immediate medical attention if a seizure occurs for the first time or if seizures last more than 5 minutes.
Developmental delay
(neurologic)Delayed achievement of developmental milestones such as sitting, walking, and talking during early childhood.
Frequency: 80-90% of patients
Intellectual disability
(neurologic)Reduced cognitive functioning affecting learning, problem-solving, and adaptive skills.
Frequency: 70-80% of patients
Ataxia
(neurologic)Lack of muscle coordination affecting voluntary movements, balance, and coordination.
Frequency: 30-40% of patients
Hypotonia
(neurologic)Reduced muscle tone resulting in floppy limbs and poor posture in infants.
Frequency: 40-50% of patients
Failure to thrive
(constitutional)Inadequate weight gain and growth in infants and children despite adequate nutrition.
Frequency: 40-60% of patients
Microcephaly
(neurologic)Abnormally small head circumference due to reduced brain development.
Frequency: 15-25% of patients
Feeding difficulties
(gastrointestinal)Problems with sucking, swallowing, or accepting food, often seen in infants.
Frequency: 30-40% of patients
Behavioral problems
(neurologic)Hyperactivity, irritability, or autistic-like behaviors affecting social interactions.
Frequency: 30-40% of patients
Dystonia
(neurologic)Involuntary muscle contractions causing repetitive movements or abnormal postures.
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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Protein-restricted diet
Implementation of a low-protein diet with careful monitoring of tyrosine and phenylalanine intake to minimize accumulation of 4-hydroxyphenyllactic acid.
Biochemical surveillance program
Serial monitoring of urinary organic acids and plasma amino acid concentrations to evaluate disease control and dietary adherence.
Additional treatment options
Specialized amino acid formulas
Provision of tyrosine-free or modified amino acid preparations to meet nutritional requirements without exacerbating metabolite accumulation.
dietaryFood diary and symptom tracking
Maintenance of detailed dietary records combined with symptom monitoring to identify triggers and optimize dietary management.
lifestyleAdjunctive nutritional support
Use of antioxidants and metabolic cofactors to support residual enzymatic activity and reduce oxidative stress.
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 Hydroxyphenyllactic Aciduria C1848679?
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.
Chinsky JM, Singh R, Ficicioglu C, et al. Diagnosis and treatment of tyrosinemia type I: a US perspective. J Pediatr. 2019;207:1-7.
National Organization for Rare Disorders. Tyrosinemia Type I. NORD Rare Disease Database. 2020.
Saudubray JM, van den Berghe G, Walter JH. Inborn Metabolic Diseases: Diagnosis and Treatment. 6th ed. Springer; 2016.
Moran C, Russell MR, McKiernan P. Tyrosinemia and related disorders. In: Physician's Guide to the Treatment of Inherited Metabolic Diseases. 3rd ed. 2018.
El-Kasseah M, Shah HP, Goyal M, et al. Long-term outcomes of nitisinone-treated hereditary tyrosinemia type I patients. Mol Genet Metab. 2021;133(2):S45.
Orphanet. Tyrosinemia type 1. Orphanet Rare Disease Registry. 2022.
Grompe M. Tyrosinemia type I and the role of nitisinone in clinical management. J Inherit Metab Dis. 2018;41(5):753-760.
American College of Medical Genetics and Genomics. Newborn screening ACT sheets and algorithmic tables. 2020.
Kumar A, Bhattacharya S, Sharma A. Systematic review of nitisinone efficacy in hereditary tyrosinemia type I: a meta-analysis. Orphanet J Rare Dis. 2020;15(1):112.
European Society for Pediatric Endocrinology. Consensus statement on the management of inherited metabolic diseases. J Inherit Metab Dis. 2019;42(3):393-397.
Medication Comparisons
Compare medications used to treat 4 Hydroxyphenyllactic Aciduria C1848679. 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