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

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

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 va...

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Bibliographic Details
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

Internet

https://www.jrmds.in/articles/a-child-with-dihydrolipoamide-dehydrogenase-dld-deficiency-with-a-rare-varianta-case-report.pdf

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