Results 1 to 10 of about 3,515 (115)

Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency [PDF]

JIMD Reports, 2023
Dihydrolipoamide dehydrogenase (DLD; E3) oxidizes lipoic acid. Restoring the oxidized state allows lipoic acid to act as a necessary electron sink for the four mitochondrial keto‐acid dehydrogenases: pyruvate dehydrogenase, alpha‐ketoglutarate ...
Parith Wongkittichote, Sanmati R. Cuddapah, Stephen R. Master, Dorothy K. Grange, Dennis Dietzen, Stephen M. Roper, Rebecca D. Ganetzky   +6 more
doaj   +4 more sources

The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia [PDF]

Molecular Genetics and Metabolism Reports, 2021
Background: Dihydrolipoamide dehydrogenase deficiency (DLDD) is a rare metabolic disorder inherited in an autosomal recessive manner. This heterogeneous disease has a variable clinical presentation, onset, and biochemical markers.
Anar Alfarsi, Majid Alfadhel, Seham Alameer, Amal Alhashem, Brahim Tabarki, Faroug Ababneh, Ahmed Al Fares, Fuad Al Mutairi   +7 more
doaj   +2 more sources

Dichloroacetate and thiamine improve survival and mitochondrial stress in a C. elegans model of dihydrolipoamide dehydrogenase deficiency [PDF]

JCI Insight, 2022
Dihydrolipoamide dehydrogenase (DLD) deficiency is a recessive mitochondrial disorder caused by depletion of DLD from α-ketoacid dehydrogenase complexes.
Chynna N. Broxton, Prabhjot Kaur, Manuela Lavorato, Smruthi Ganesh, Rui Xiao, Neal D. Mathew, Eiko Nakamaru-Ogiso, Vernon E. Anderson, Marni J. Falk   +8 more
doaj   +2 more sources

Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte [PDF]

Molecular Genetics and Metabolism Reports, 2014
Dihydrolipoamide dehydrogenase deficiency, also known as maple syrup urine disease (MSUD) type III, is caused by the deficiency of the E3 subunit of branched chain alpha-ketoacid dehydrogenase (BCKDH), α-ketoglutarate dehydrogenase (αKGDH), and pyruvate ...
Shane C. Quinonez, Andrea H. Seeley, Mary Seeterlin, Eleanor Stanley, Ayesha Ahmad   +4 more
doaj   +2 more sources

In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction [PDF]

Molecular Genetics and Metabolism Reports
Dihydrolipoamide dehydrogenase (DLD) deficiency is an autosomal recessive disorder characterized by a functional disruption in several critical mitochondrial enzyme complexes, including pyruvate dehydrogenase and α-ketoglutarate dehydrogenase.
Uri Sprecher, Jeevitha Dsouza, Monzer Marisat, Dinorah Barasch, Kumudesh Mishra, Or Kakhlon, Ph.D., Joshua Manor, MD.Ph.D., Yair Anikster, MD. Ph.D., Miguel Weil, Ph.D.   +8 more
doaj   +2 more sources

Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver [PDF]

JIMD Reports
Dihydrolipoamide dehydrogenase (DLD) deficiency can, in one of its forms, be a rare cause of acute liver failure. Clinical presentation is nonspecific.
Mihaela Mihaljević, Danijela Petković Ramadža, Tamara Žigman, Ivana Rako, Slobodan Galić, Toni Matić, Filip Rubić, Ivana Čulo Čagalj, Davor Mayer, Ante Gojević, Stanko Ćavar, Marijana Ćorić, Melanie T. Achleitner, Johannes A. Mayr, Ksenija Fumić, Jurica Vuković, Ivo Barić   +16 more
doaj   +2 more sources

Dihydrolipoamide dehydrogenase deficiency in two unrelated Tunisian children [PDF]

BMC Pediatrics
Background Dihydrolipoamide dehydrogenase deficiency (DLDD) (OMIM# 246,900) is an extremely rare inherited metabolic disorder causing neurological and/or liver impairment.
Hajer Aloulou, Fatma Charfi, Rim Charfi, Amel Ben Chehida, Hela Boudabbous, Imen Chabchoub, Elise Lebigot, Thouraya Kammoun, Ines Maaloul   +8 more
doaj   +2 more sources

Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked Defects [PDF]

Antioxidants
Dihydrolipoamide dehydrogenase (DLD) deficiency (MIM #246900) is a rare autosomal recessive mitochondrial disorder caused by pathogenic variants in the DLD gene, which encodes the E3 subunit common to multiple mitochondrial enzyme complexes, including ...
Yarden Haham Zarbib, Shira Huri Ohev-Shalom, Shani Kassia Lyskov, Yuval Mazor, Mika Anekstein-Spigel, Nechama Shalva, Ronen Spiegel, Orna Staretz-Chacham, Joshua Manor, Ann Saada, Rachel Rock, Yair Anikster, Tal Yardeni   +12 more
doaj   +2 more sources

An Updated View on the Molecular Pathomechanisms of Human Dihydrolipoamide Dehydrogenase Deficiency in Light of Novel Crystallographic Evidence. [PDF]

Neurochem Res, 2019
Dihydrolipoamide dehydrogenase (LADH, E3) deficiency is a rare (autosomal, recessive) genetic disorder generally presenting with an onset in the neonatal age and early death; the highest carrier rate has been found among Ashkenazi Jews.
Ambrus A.
europepmc   +4 more sources

Human 2-Oxoglutarate Dehydrogenase Complex E1 Component Forms a Thiamin-derived Radical by Aerobic Oxidation of the Enamine Intermediate. [PDF]

, 2014
Herein are reported unique properties of the human 2-oxoglutarate dehydrogenase multienzyme complex (OGDHc), a rate-limiting enzyme in the Krebs (citric acid) cycle.
Ambrus, Attila, Gerfen, Gary, Nemeria, Natalia S., Patel, Hetalben, Tretter, László, Ádám, Veronika   +5 more
core   +4 more sources