Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment

Dongen, Sanne van; Brown, Ruth; Brown, Garry K.; Thorburn, David R.; Boneh, Avihu

doi:10.1007/8904_2014_293

Cited by 28 publications

(28 citation statements)

References 34 publications

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“…Patients with Leigh disease are usually born in a consanguineous marriage and have delayed neurological development and optic atrophy. Thiamineresponsive Leigh disease usually presents after 1 year of age with chronic or recurrent neurological illness [17,18]. MRI of the brain in Leigh disease may show lesions in other locations besides basal ganglia, like brainstem.…”

Section: Discussionmentioning

confidence: 99%

Infantile encephalitic beriberi: magnetic resonance imaging findings

et al. 2015

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Section: Discussionmentioning

confidence: 99%

Infantile encephalitic beriberi: magnetic resonance imaging findings

et al. 2015

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“…PDHC activity relative to citrate synthase activity in the HIBCHD patient's cultured skin fibroblasts was 26% of controls as previously reported [6]. This was initially considered indicative of PDHC deficiency.…”

Section: Enzyme Activitiesmentioning

confidence: 95%

“…PDHC activity was measured in cultured skin fibroblasts (Prof David Thorburn, Murdoch Children's Research Institute) as previously described [6]. HIBCH activity in cultured skin fibroblasts was measured as previously described [7].…”

Section: Enzyme Assaysmentioning

confidence: 99%

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening

Peters

Ferdinandusse

Ruiter

et al. 2015

Molecular Genetics and Metabolism

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“…Thiamin supplementation may be beneficial in patients with inborn errors of metabolism such as thiamin‐responsive MSUD (branched‐chain ketoaciduria) 22 and thiamin‐responsive PDH deficiency 138 …”

Section: Thiamin In Clinical Practice: Other Applicationsmentioning

confidence: 99%

Thiamin in Clinical Practice

Frank

2015

J Parenter Enteral Nutr

127

150

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Thiamin is a water-soluble vitamin also known as vitamin B1. Its biologically active form, thiamin pyrophosphate (TPP), is a cofactor in macronutrient metabolism. In addition to its coenzyme roles, TPP plays a role in nerve structure and function as well as brain metabolism. Signs and symptoms of thiamin deficiency (TD) include lactic acidosis, peripheral neuropathy, ataxia, and ocular changes (eg, nystagmus). More advanced symptoms include confabulation and memory loss and/or psychosis, resulting in Wernicke's encephalopathy and/or Wernicke's Korsakoff syndrome, respectively. The nutrition support clinician should be aware of patients who may be at risk for TD. Risk factors include those patients with malnutrition due to 1 or more nutrition-related etiologies: decreased nutrient intake, increased nutrient losses, or impaired nutrient absorption. Clinical scenarios such as unexplained heart failure or lactic acidosis, renal failure with dialysis, alcoholism, starvation, hyperemesis gravidarum, or bariatric surgery may increase the risk for TD. Patients who are critically ill and require nutrition support may also be at risk for TD, especially those who are given intravenous dextrose void of thiamin repletion. Furthermore, understanding thiamin's role as a potential therapeutic agent for diabetes, some inborn errors of metabolism, and neurodegenerative diseases warrants further research. This tutorial describes the absorption, digestion, and metabolism of thiamin. Issues pertaining to thiamin in clinical practice will be described, and evidence-based practice suggestions for the prevention and treatment of TD will be discussed.

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Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment

Abstract: Pyruvate dehydrogenase complex (PDHC) deficiency is a disorder of energy metabolism that leads to a range of clinical manifestations. We sought to characterise clinical manifestations and biochemical, neuroimaging and molecular findings in thiamine

Cited by 28 publications

References 34 publications

Infantile encephalitic beriberi: magnetic resonance imaging findings

Infantile encephalitic beriberi: magnetic resonance imaging findings

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening

Thiamin in Clinical Practice

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