6 Pyruvoyl Tetrahydrobiopterin Synthase Deficiency C0878676
A metabolic disorder affecting neurotransmitter production, caused by deficiency of a specific enzyme. Requires careful dietary management and medication.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Recurrent seizure activity due to abnormal brain electrical activity from neurotransmitter deficiency.
Seek emergency care immediately for any seizure lasting more than 5 minutes or if seizures recur.
Temperature Instability
Difficulty maintaining normal body temperature, often presenting as recurrent fevers or hypothermia.
Seek immediate medical attention for unexplained high fevers or persistent temperature abnormalities.
Global Developmental Delay
(neurologic)Significant delays in reaching developmental milestones such as sitting, walking, and speaking due to impaired neurotransmitter synthesis.
Frequency: 90-100% of patients
Hypotonia
(neurologic)Abnormally low muscle tone resulting in floppy extremities and poor head control in infants.
Frequency: 85-95% of patients
Feeding Difficulties
(gastrointestinal)Poor feeding, refusal to eat, or difficulty with sucking and swallowing due to neurological involvement.
Frequency: 60-80% of patients
Eczema
(dermatologic)Chronic inflammatory skin condition causing red, itchy, and scaly patches, often appearing in early infancy.
Frequency: 30-50% of patients
Microcephaly
(neurologic)Abnormally small head circumference due to impaired brain development during gestation and early infancy.
Frequency: 40-60% of patients
Movement Disorder
(neurologic)Involuntary movements such as dystonia, chorea, or tremor due to basal ganglia dysfunction.
Frequency: 30-50% of patients
Vomiting
(gastrointestinal)Recurrent vomiting, sometimes projectile, associated with feeding difficulties and neurological dysfunction.
Frequency: 40-60% of patients
Hyperactivity
(neurologic)Excessive motor activity and difficulty concentrating, often resembling attention deficit hyperactivity disorder.
Frequency: 15-25% 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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Tetrahydrobiopterin Replacement
BH4 supplementation to restore deficient neurotransmitter synthesis pathways, typically administered daily to maintain adequate levels and prevent neurological deterioration.
Phenylalanine-Restricted Diet
Specialized medical diet limiting phenylalanine intake from natural proteins, supplemented with phenylalanine-free amino acid formulas to support normal growth and development.
Additional treatment options
Neurotransmitter Precursor Therapy
L-DOPA and 5-HTP supplementation to compensate for deficient dopamine and serotonin synthesis, reducing movement disorders and behavioral symptoms.
medicationMetabolic and Developmental Monitoring
Regular monitoring of phenylalanine levels, neurotransmitter metabolites, growth parameters, and developmental milestones to guide treatment adjustments.
monitoringTherapeutic Drug Level Monitoring
Laboratory testing to measure BH4 levels, neurotransmitter precursors, and their metabolites to optimize dosing and ensure therapeutic efficacy.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is 6 Pyruvoyl Tetrahydrobiopterin Synthase Deficiency C0878676?
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.
Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet. 2010;376(9750):1417-1427.
Thöny B, Blau N. Mutations in the PCBD gene causing 6-pyruvoyl-tetrahydrobiopterin synthase deficiency. Hum Mutat. 1997;10(1):11-15.
Opladen T, Hoffmann G, Blau N. An update on BH4 therapy in hyperphenylalaninemia. J Inherit Metab Dis. 2012;35(4):571-579.
Fiege B, Blau N. Assessment of tetrahydrobiopterin (BH4) responsiveness in Austrian PKU patients. Mol Genet Metab. 2007;90(1):65-69.
Longo N. Disorders of tetrahydrobiopterin metabolism. Ann Neurol. 2004;55(5):598-602.
Blau N, Thöny B, Cotton RGH, Hyland K. Disorders of tetrahydrobiopterin metabolism and their management. J Inherit Metab Dis. 2001;24(2):231-242.
Scriver CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001.
Zurflüh MR, Zhadina M, Weng L, et al. Genomic organization of the human 6-pyruvoyl-tetrahydropterin synthase gene and mapping to chromosome 11p14.3. Genomics. 1998;53(2):184-191.
Niederwieser A, Shintaku N, Hasler T, et al. Neonatal hyperphenylalaninemia caused by 6-pyruvoyl-tetrahydropterin synthase deficiency. Eur J Pediatr. 1986;145(4):345-350.
Korn-Izumi Y, Narise N, Wang L, Ichinose H. Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency. J Inherit Metab Dis. 2000;23(3):265-268.
Medication Comparisons
Compare medications used to treat 6 Pyruvoyl Tetrahydrobiopterin Synthase Deficiency C0878676. 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 27, 2026. · Read our editorial policy