HPDL encodes 4-hydroxyphenylpyruvate dioxygenase like (371 aa). Iron-dependent dioxygenase that catalyzes the conversion of 4-hydroxyphenylpyruvate (4-HPPA) to 4-hydroxymandelate (4-HMA) in the mitochondria, one of the steps in the biosynthesis of coenzyme Q10 fro... Highest expression in Cells EBV-transformed lymphocytes (12.6 TPM) and Brain Cerebellar Hemisphere (8.7 TPM).

Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities is associated with mutations in the HPDL gene on chromosome 1.

The HPDL protein participates in HPDL dioxygenates HPPA and Ubiquinol biosynthesis pathways.

HPDL is classified as a druggable target with score 0.0.

Genetic testing for HPDL is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 13 common features.

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

No clinical trials have been registered for neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities.

9 publications have been identified in PubMed for neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities. Research spans Epidemiology / Natural History (33%), Basic Science / Preclinical (22%), and Other (11%).

Recent Publications

• Safka Brozkova D (2026). [PMID: 41749354](https://pubmed.ncbi.nlm.nih.gov/41749354/). *Hum Genomics*. [Gene Therapy / Novel Therapeutics]

• Lee EH (2025). [PMID: 40368591](https://pubmed.ncbi.nlm.nih.gov/40368591/). *Ann Clin Transl Neurol*. [Epidemiology / Natural History]

• Ma Y (2025). [PMID: 39427829](https://pubmed.ncbi.nlm.nih.gov/39427829/). *Gene*. [Case Report / Case Series]

• Shi G (2025). [PMID: 40634618](https://pubmed.ncbi.nlm.nih.gov/40634618/). *Nature*. [Basic Science / Preclinical]

• Brooks AK (2025). [PMID: 41815511](https://pubmed.ncbi.nlm.nih.gov/41815511/). *Ann Child Neurol Soc*. [Diagnostic / Biomarker]

• Su H (2025). [PMID: 40688203](https://pubmed.ncbi.nlm.nih.gov/40688203/). *Transl Pediatr*. [Epidemiology / Natural History]

• German HM (2025). [PMID: 41001736](https://pubmed.ncbi.nlm.nih.gov/41001736/). *Genet Med*. [Basic Science / Preclinical]

• Chityala A (2025). [PMID: 40711653](https://pubmed.ncbi.nlm.nih.gov/40711653/). *Indian J Pediatr*. [Other]

• Ismael SM (2024). [PMID: 38788279](https://pubmed.ncbi.nlm.nih.gov/38788279/). *Pediatr Neurol*. [Epidemiology / Natural History]