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Chromatin Structure Overview to Histone Deacetylation6Topics
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Nucleoside and Nucleotide Basics to Base Pairing and DNA Stability5Topics
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Introduction to Nucleotide Synthesis Inhibition to Broad-Spectrum Inhibitors and CPS Enzymes5Topics
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Purine Metabolism and Salvage Pathways to Genetic Code: Commaless and Universal6Topics
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DNA Replication Basics to Detailed Lagging Strand Synthesis7Topics
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DNA Repair: Nonhomologous End Joining to DNA Repair: Mismatch Repair5Topics
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Introduction to DNA Mutations to Lac Operon Gene Expression States8Topics
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Page 1 — Eukaryotic Gene Overview to Page 1 — RNA Processing: Splicing & Fate8Topics
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Eukaryotic RNA Polymerases: Types to Splicing Diagram: Lariat & Mature mRNA7Topics
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Introns vs Exons: Basic Definitions to Visualizing Alternative Splicing and Protein Diversity4Topics
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tRNA Structure Overview to mRNA Stop Codons6Topics
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Protein Synthesis: Initiation Phase to Posttranslational Modifications: Chaperone Proteins6Topics
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Cell Cycle Phases and Regulation to p53 and Apoptosis Induction7Topics
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Rough Endoplasmic Reticulum Functions to Specific Vesicular Trafficking Proteins7Topics
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Peroxisome Functions to Drugs Affecting Microtubules5Topics
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Cilia Structure: Motile Cilia and Basal Body to K+ Pump Inhibition6Topics
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Collagen Introduction and Type I to Collagen Synthesis: Maturation and Fibril Formation6Topics
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Osteogenesis Imperfecta: Genetic Basis to Menkes Disease6Topics
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Elastin: Structure and Composition to PCR Cycle: Elongation and Repetition8Topics
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CRISPR to Interpreting Southern Blot Results5Topics
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Flow Cytometry: Basics and Applications to ELISA: Principle and Uses4Topics
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Karyotyping: Principles and Applications to Molecular Cloning: Process and Applications4Topics
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Transgenic Strategies in Mice to Epistasis and Aneuploidy7Topics
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Genetic Terms: Dominant Negative & Linkage Disequilibrium to Conditions for Hardy-Weinberg Equilibrium7Topics
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Introduction to Imprinting Disorders to Visualizing Normal vs. Mutated Chromosomes6Topics
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Autosomal Dominant Inheritance to Pedigree Chart Symbols6Topics
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Autosomal Dominant Disorders to CFTR Channel Function Diagram11Topics
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X-linked Recessive Diseases Introduction to Myotonic Dystrophy6Topics
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Mitochondrial Diseases: MELAS & MERRF to Trinucleotide Repeat Diseases: Fragile X & Friedreich Ataxia8Topics
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Autosomal Trisomies & Down Syndrome Overview to Second Trimester Screening & NIPT8Topics
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Genetic Disorders: Chromosomes 3-7 to Williams Syndrome6Topics
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Polyunsaturated Essential Fatty Acids to Water-Soluble Vitamins: Deficiencies and Coenzyme Functions5Topics
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Vitamin A: Functions and Forms to Vitamin B1: Beriberi Forms7Topics
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Vitamin B2: Function and Deficiency to Vitamin B6 Deficiency Symptoms7Topics
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Vitamin B7 (Biotin): Function and Deficiency to Vitamin B9 (Folate): Deficiency, Causes, and Prevention3Topics
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Vitamin B12: Name, Function, and Sources to Vitamin C: Excess and Toxicity7Topics
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Vitamin D Introduction and Function to Vitamin E Deficiency and Excess Effects6Topics
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Vitamin K Function to Marasmus: Characteristics and Visuals7Topics
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Ethanol Metabolism Overview to Pharmacological Interventions in Alcohol Metabolism5Topics
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Enzyme Terminology: Kinase & Phosphorylase to Rate-Determining Enzymes: Lipid Metabolism7Topics
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Key Metabolic Locations to Glucose Breakdown and NADPH Production4Topics
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ATP Production Pathways to Hexokinase vs Glucokinase: Kinetics & Regulation5Topics
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Glycolysis Net Reaction to PDC: α-Ketoglutarate & Arsenic7Topics
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Pyruvate Dehydrogenase Deficiency to The TCA Cycle (Krebs Cycle)3Topics
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ETC Overview to Fatty Acids in Gluconeogenesis9Topics
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Introduction to Pentose Phosphate Pathway to G6PD Deficiency: Biochemical Mechanism of Oxidative Stress7Topics
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Essential Fructosuria to Galactose Metabolism Pathway & Summary6Topics
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Sorbitol Pathway and Diabetic Complications to Acidic and Basic Amino Acids6Topics
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Urea Cycle Introduction to Hyperammonemia Treatment5Topics
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Ornithine Transcarbamylase Deficiency to Catecholamine Synthesis and Degradation5Topics
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Phenylketonuria: Basic Defect and BH4 Deficiency to Alkaptonuria7Topics
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Homocystinuria: Genetic Causes to Methylmalonic Acidemia: Deficiency & Metabolism6Topics
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Glucagon to Glycogen Disorders and Enzymes6Topics
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Introduction to Glycogen Storage Diseases to McArdle Disease (Type V)6Topics
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Lysosomal Storage Diseases Intro & Tay-Sachs to Lysosomal Storage Disease Pathway6Topics
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Fatty Acid Synthesis Overview to Medium-Chain Acyl-CoA Dehydrogenase Deficiency4Topics
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Hepatic Ketone Body Synthesis to Adipocyte Metabolism: Fed State4Topics
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Metabolic Fuel Use: Initial Exercise to Starvation After Day 3 and Stored Energy Depletion7Topics
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Dietary Lipid Absorption and Chylomicron Entry to IDL, LDL Formation, and Uptake4Topics
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Key Enzymes in Lipid Transport - Part 1 to Major Apolipoproteins - Part 25Topics
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Lipoprotein Functions: Chylomicron & VLDL to Familial Dyslipidemias: Dysbetalipoproteinemia & Hypertriglyceridemia5Topics
Pyruvate Dehydrogenase Deficiency
Content August 26, 2025
Lesson Progress
0% Complete
Pyruvate dehydrogenase complex deficiency
Causes a buildup of pyruvate that gets shunted to lactate (via LDH) and alanine (via ALT). X-linked.
FINDINGS
- Neurologic defects, lactic acidosis
- ↑ serum alanine starting in infancy
TREATMENT
- ↑ intake of ketogenic nutrients (eg, high fat content or ↑ lysine and leucine)
