A Child with Dihydrolipoamide Dehydrogenase (DLD) Deficiency with a Rare Variant-A Case Report

• Main Authors: Ahmed Bin Gaith Al-Mehmadi, Helal Helal Almalki, Aalia Akhtar Hayat
• Format: Article
• Language: English
• Published: Amber Publication 2020-06-01
• Series: Journal of Research in Medical and Dental Science
• Subjects: pyruvate dehydrogenase e3 deficiency; dld deficiency; e3-deficient maple syrup urine disease; e3 deficiency; maple syrup urine disease type iii; autosomal recessive disease; rare gene variant; dldd; dldh; e3; gcsl; lad; phe3; genetic diseases; metabolic disorders; lipoic acid biosynthesis defects; pyruvate dehydrogenase complex deficiency
• Online Access: https://www.jrmds.in/articles/a-child-with-dihydrolipoamide-dehydrogenase-dld-deficiency-with-a-rare-varianta-case-report.pdf

DLD c.685G>T, P. (Gly22gcys) is categorized as pathogenic and has the entrenched role as a disease- causing variant. Diseases caused by DLD variants are inherited in an autosomal recessive fashion. The patient is typically homozygous for the variant. Typically, both parents are carriers of the variant. Each offspring of an affected individual has a 25% probability of being homozygous for the variant, a 50% chance of being an asymptomatic carrier, and a 25% chance of being an unaffected non-carrier. Mutations in DLD are associated with a severe disorder of infancy with failure to thrive, hypotonia, and metabolic acidosis. We presented the case of a 6-year-old child with homozygous splice region missense variant c.685G>T, p. (Gly229Cys) in DLD, her presentation, course of the illness, diagnosis and management in detail. Genetic counseling and family member testing are recommended, and early diagnosis and intervention may prevent the precipitation of an acute episode in such cases.