Pyruvate dehydrogenase deficiency

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Summary of Pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase deficiency, also called pyruvate dehydrogenase complex deficiency, is one of the most common neurodegenerative disorders associated with abnormal mitochondrial metabolism. Pyruvate dehydrogenase deficiency is an X-linked disease that shows heterogeneous characteristics in both clinical presentation and biochemical abnormality. The pyruvate dehydrogenase complex is a multi-enzyme complex that plays a vital role as a key regulatory step in the central pathways of energy metabolism in the mitochondria.

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Pyruvate dehydrogenase deficiency

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Chapter 49 Mitochondrial Disease TREATMENT OTHER INTERVENTIONS ▪ Aerobic exercises ▪ Coenzyme Q10, L-carnitine, creatine supplementation ▪ MELAS ▫ Intravenous arginine hydrochloride with saline, ﬂuids with dextrose ▪ Avoid ▫ Valproic acid, tetracyclines, barbiturates, chloramphenicol, aminoglycosides, metmorﬁn PYRUVATE DEHYDROGENASE DEFICIENCY osms.it/PDH-deficiency PATHOLOGY & CAUSES ▪ X-linked disease characterized by abnormal pyruvate metabolism CAUSES ▪ E1 alpha gene mutation ▫ Pyruvate dehydrogenase E1 alpha subunit deﬁciency → ↓ production of acetyl-coenzyme A (CoA) → limited citrate production → citric acid cycle (Krebs cycle) impairment ▪ Impaired Krebs cycle ▫ Energy production disorder; brain needs energy from Krebs cycle → neurological symptoms ▫ Pyruvate accumulation → transformation to lactate, alanine → lactate buildup → lactic acidosis → metabolic symptoms ▪ Residual activity of enzyme determines clinical presentation ▫ Severe deﬁciency → congenital brain malformations ▫ Moderate deﬁciency → neurological symptoms onset in infancy/later childhood COMPLICATIONS ▪ Intellectual disability, microcephaly, blindness ▪ Leigh syndrome ▫ Gray matter degeneration, capillary proliferation, focal necrosis SIGNS & SYMPTOMS ▪ Metabolic disorders ▫ Lethargy, poor feeding, mental/ psychomotor delay ▪ Neurological symptoms ▫ Ataxia, hypotonia, progressive encephalopathy, abnormal eye movements, seizures, dystonia ▪ Acidosis respiratory symptoms ▫ Dyspnea, Cheyne–Stokes breathing, respiratory failure OSMOSIS.ORG 285

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Pyruvate dehydrogenase deficiency

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A 1-month-old boy comes to the emergency department because, per his parents, "he has been acting strangely since being brought home from the hospital." His mother says he has not been eating well and seems lethargic. Physical examination shows mild hypotonia with no other abnormalities. Blood tests taken the week before show a significantly elevated lactate level. An enzyme assay shows pyruvate dehydrogenase deficiency. Which of the following amino acids should the parents be advised to increase in this patient's diet?

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