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hawkinsinuria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hawkinsinuria

MONDO:0007700

Also known as:4-HPPD deficiency4-alpha-hydroxyphenylpyruvate hydroxylase deficiency4-hydroxyphenylpyruvic acid dioxygenase deficiency

Overview

Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.

GeneticsAutosomal dominant · HPD (chr 12)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria, Hawkinsinuria, and 4-hydroxyphenylacetic aciduria; and common findings: Microcephaly, Mild intellectual disability, Sparse hair, and Failure to thrive and others. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	1	Microcephaly

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HPD encodes 4-hydroxyphenylpyruvate dioxygenase (393 aa). Catalyzes the conversion of 4-hydroxyphenylpyruvic acid to homogentisic acid, one of the steps in tyrosine catabolism Highest expression in Liver (1,002 TPM) and Kidney Cortex (168.7 TPM).

Hawkinsinuria has limited evidence linking it to mutations in the HPD gene on chromosome 12.

The HPD protein participates in HPD dioxygenates HPP, HPDL dioxygenates HPPA, and Unknown enzyme hydrogenates HPP pathways.

HPD is classified as a druggable target (Druggable Genome and Enzyme categories) with score 52.2.

Diagnosis

Genetic testing for HPD is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hawkinsinuria.

5 publications have been identified in PubMed for hawkinsinuria. Research spans Basic Science / Preclinical (80%) and Case Report / Case Series (20%).

Recent Publications

Sun T (2026). [PMID: 41725899](https://pubmed.ncbi.nlm.nih.gov/41725899/). *Synth Syst Biotechnol*. [Basic Science / Preclinical]
Lindlar NSW (2026). [PMID: 41806056](https://pubmed.ncbi.nlm.nih.gov/41806056/). *J Biol Inorg Chem*. [Basic Science / Preclinical]
Huang CW (2026). [PMID: 42140431](https://pubmed.ncbi.nlm.nih.gov/42140431/). *J Biol Chem*. [Basic Science / Preclinical]
Bassett J (2025). [PMID: 40789710](https://pubmed.ncbi.nlm.nih.gov/40789710/). *BMJ Case Rep*. [Case Report / Case Series]
Trezza A (2024). [PMID: 38927403](https://pubmed.ncbi.nlm.nih.gov/38927403/). *Biomedicines*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 8:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:140350

Orphanet

European rare disease database

Orphanet:2118

GARD

Genetic and Rare Diseases Info Center

GARD:5668

Questions for Your Care Team

→Should I pursue genetic testing for HPD, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hawkinsinuria

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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