This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
A Patient Registry and Natural History Study of Patients With Biallelic HPDL Mutations
A novel mitochondrial disease arises from mutations in HPDL, which codes for 4-hydroxyphenylpyruvate dioxygenase-like protein. The main purpose of this study is to establish a patient registry to gather medical data from consenting HPDL mutation patients worldwide. From longitudinal data, we will be able to figure out the natural history of the disease, and genotype-phenotype correlation. Dry blood spots will be collected to develop biomarkers to understand the disease better.