Dataset for: Dihydrolipoamide Dehydrogenase (DLD) Deficiency: A Case Report

This dataset is associated with a case report titled "Dihydrolipoamide Dehydrogenase (DLD) Deficiency: A Case Report". It contains fully de-identified clinical, biochemical, metabolic, and genetic data from a pediatric patient diagnosed with DLD deficiency. The dataset includes liver function tests, coagulation profile, blood glucose measurements, arterial blood gas parameters, lactate levels, ammonia levels, and alpha-amylase values collected during recurrent metabolic crises. In addition, the dataset provides a summary of genetic findings, including a homozygous pathogenic variant in the DLD gene (NM_000108.5:c.685G>T, p.Gly229Cys), consistent with autosomal recessive dihydrolipoamide dehydrogenase deficiency. A detailed clinical timeline is also included, outlining the patient’s initial presentation, recurrent episodes, diagnostic workup including liver biopsy findings, and confirmation by whole exome sequencing. All data are anonymized and contain no identifiable patient information. The dataset corresponds directly to the data presented in the associated manuscript.