Article

Dihydrolipoamide Dehydrogenase (DLD) Deficiency: A Case Report

2026-06-23

Abstract excerpt

<title>Abstract</title> <p>Background: Dihydrolipoamide dehydrogenase deficiency (DLDD) is a rare autosomal-recessive mitochondrial disorder that may present as episodic hepatic crises with full recovery between attacks, leading to delayed diagnosis. Case presentation: A 7-year-old boy from Jordan had recurrent monthly episodes of abdominal pain and vomiting with intermittent jaundice. Episodes were associated wi...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 51fe0e69-496d-56e1-8f3d-fd54028a9609
DOI: 10.21203/rs.3.rs-8767981/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Dihydrolipoamide Dehydrogenase (DLD) Deficiency: A Case ReportDOI 10.21203/rs.3.rs-8767981/v1Read

The natural history of dihydrolipoamide dehydrogenase deficiency in Israel.Semantic proximity Read

Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.Semantic proximity Read

Novel Biallelic Variants in DLD Gene Cause a Reversible Sensory Neuropathy.Semantic proximity Read

[Hepatic glycogen storage diseases: Symptoms, management and associated mutations].Semantic proximity Read

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.Semantic proximity Read

Acute Encephalopathy Caused by Inherited Metabolic DiseasesSemantic proximity Read

Alagille Syndrome: Current Understanding of Pathogenesis, and Challenges in Diagnosis and Management.Semantic proximity Read

Glycogen storage disease Ia complicated with multiple hepatic adenomas: a case report and literature reviewSemantic proximity Read

Mitochondrial HMG-CoA Synthase Deficiency in Vietnamese PatientsSemantic proximity Read

Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency.Semantic proximity Read

The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series.Semantic proximity Read

Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan.Semantic proximity Read