Pyruvate Dehydrogenase Deficiency
- Pyruvate Dehydrogenase Deficiency
- Pyruvate Kinase Deficiency
- G6PD Deficiency
- Essential Fructosuria
- Hereditary Fructose Intolerance
- Galactokinase Deficiency
- Lactase Deficiency
- Ornithine Transcarbamylase Deficiency
- Phenylketonuria (PKU)
- Maple Syrup Urine Disease
- Propionic Acidemia
- Lesch-Nyhan Syndrome
- Systemic Primary Carnitine Deficiency
- MCAD Deficiency
Pyruvate Dehydrogenase Deficiency is a X-linked recessive metabolic disorder characterized by defects in the pyruvate dehydrogenase complex, which normally converts pyruvate to acetyl-CoA (see Pyruvate Metabolism).
Reduction in acetyl-CoA impairs the citric acid cycle and the synthesis of ATP, mainly resulting in neurologic defects. Neurologic findings include motor delay, poor muscle tone, seizures, ataxia, abnormal eye movements and poor visual tracking.
Additionally, excess pyruvate results in increased lactate produced by LDH, or lactate dehydrogenase, and increased alanine via AST, or alanine transminase (see Pyruvate Metabolism).
Find this Pyruvate Dehydrogenase Deficiency Mnemonic and more mnemonics for Metabolic Disorders among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exam.