Pyruvate dehydrogenase deficiency

Results: 6



#Item
1Claire Bennet / Claire Littleton / Fiction

Isabelle, 3, suffers from pyruvate dehydrogenase deficiency, a form of mitochondrial disease. It’s a condition which her mum believes affects just ten other children in the UK in a similar way that it affects Isabelle.

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Source URL: www.claire-house.org.uk

Language: English - Date: 2015-05-06 06:41:50
2Enzymes / Carbonic anhydrase / Carbonic anhydrase inhibitors / Hyperammonemia / Propionyl-CoA carboxylase / Pyruvate carboxylase / Biotin / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Acetazolamide / Chemistry / Medicine / Health

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

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Source URL: www.tidebc.org

Language: English - Date: 2014-02-13 12:45:25
3Autoantigens / Pediatrics / Branched-chain amino acids / Maple syrup urine disease / Branched-chain alpha-keto acid dehydrogenase complex / Newborn screening / Dihydrolipoamide dehydrogenase / Pyruvate dehydrogenase / Inborn error of metabolism / Health / Rare diseases / Medicine

Disease Name MAPLE SYRUP URINE DISEASE (MSUD) (BRANCHED-CHAIN KETOACIDURIA; BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY; MSUD; KETO ACID DECARBOXYLASE DEFICIENCY) Organic aciduria Classification:

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Source URL: www.idph.state.ia.us

Language: English - Date: 2007-06-25 16:37:11
4Seizure types / Medical terms / Myoclonic astatic epilepsy / Ketogenic diet / Myoclonus / West syndrome / Anticonvulsant / Myoclonic epilepsy / Pyruvate dehydrogenase deficiency / Epilepsy / Brain / Central nervous system

Frequently asked questions about when to consider diet therapy for epilepsy 1. When should the diet be considered? Approximately 70% of children who develop epilepsy will respond to pharmacologic treatment but about 30%

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Source URL: site.matthewsfriends.org

Language: English - Date: 2010-02-03 10:27:17
5Moonlighting proteins / Chemistry / Pyruvate dehydrogenase deficiency / Pyruvate dehydrogenase / Dihydrolipoyl transacetylase / Inborn errors of carbohydrate metabolism / Pyruvate carboxylase / Lactic acidosis / Lipoic acid / Mitochondrial diseases / Health / Biology

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Source URL: www.ncbi.nlm.nih.gov

6Glucose-6-phosphate dehydrogenase / Hematology / Hemolysis / Vicia faba / Jaundice / Hemoglobinopathy / Polymorphism / Sickle-cell disease / Pyruvate kinase / Medicine / Glucose-6-phosphate dehydrogenase deficiency / Health

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Source URL: www.kfshrc.edu.sa

Language: English - Date: 2000-07-04 17:00:00
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