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The Medical Biochemistry
  • Foundational Biochemistry
    • Enzyme Kinetics and Diagnostic Uses of Enzymes
    • Thermodynamics in Biochemical Processes
    • Ionic Equilibrium: Biological Buffering
  • Biochemistry Topics
    • Carbohydrate Metabolism
      • Biochemical Properties of Carbohydrates
      • Glycolysis and the Regulation of Blood Glucose
      • Fructose Metabolism
      • Galactose Metabolism
      • Gluconeogenesis
      • Glycogen Metabolism
      • Pentose Phosphate Pathway
      • Ethanol (Alcohol) Metabolism: Acute and Chronic Toxicities
      • Glycosaminoglycans and Proteoglycans
      • NADPH: Reductive Biosynthesis and Cellular Redox Control
    • Lipid Metabolism
      • Biochemical Properties of Lipids
      • Synthesis of Fatty Acids
      • Synthesis of Triglycerides
      • Synthesis of Phospholipids
      • Lipolysis and the Oxidation of Fatty Acids
      • Cholesterol: Synthesis, Metabolism, and Regulation
      • Bile Acid Synthesis, Metabolism, and Biological Functions
      • Omega-3 and Omega-6 Fatty Acid Synthesis, Metabolism, Functions
      • Eicosanoid Metabolism: Prostaglandins, Thromboxanes, Leukotrienes, and Lipoxins
      • Sphingolipid Metabolism and the Ceramides
      • Bioactive Lipids and Lipid Sensing Receptors
      • Bioactive Lipid Mediators of Inflammation
      • Lipoproteins, Blood Lipids, and Lipoprotein Metabolism
      • Ethanol (Alcohol) Metabolism: Acute and Chronic Toxicities
      • Endocannabinoids in Feeding Behavior and Energy Homeostasis
      • Krill Oil: Nutritional Benefits
    • Amino Acids and Proteins
      • Biochemical Properties of Amino Acids
      • Amino Acid Biosynthesis
      • Amino Acid Catabolism
      • Amino Acid Derivatives: Neurotransmitters, Nitric Oxide, and More
      • Glycoproteins: Synthesis and Clinical Consequences
      • Hemoglobin and Myoglobin
      • Protein Structure and Analysis
    • Nucleic Acid Biochemistry
      • Biochemical Properties of Nucleic Acids
      • Nucleotides: Biosynthesis and Catabolism
    • Nitrogen Metabolism
      • Heme and Bilirubin Metabolism
      • Nitrogen Metabolism and the Urea Cycle
    • Iron and Copper Homeostasis
      • Iron and Copper Homeostasis
    • Energy Generating Processes
      • Mitochondria: Biogenesis, Functions, and Disease
      • Oxidative Phosphorylation and Related Mitochondrial Functions
      • Pyruvate Dehydrogenase Complex and TCA Cycle
  • Cellular & Molecular Biology
    • Cell Cycles
      • Eukaryotic Cell Cycles: Mitosis and Meiosis
    • Cellular Structure & Organization
      • Biological Membranes and Membrane Transport Processes
      • Extracellular Matrix (ECM)
      • Glycosaminoglycans and Proteoglycans
      • Mitochondria: Biogenesis, Functions, and Disease
    • Control of Gene Expression
      • Regulation of Gene Expression
    • DNA, RNA, and Protein Metabolism
      • DNA: Chromatin Structure, Replication, DNA Damage Repair
      • RNA: Transcription and Processing
      • Protein Synthesis (Translation): Processes and Regulation
      • Protein Modifications
      • Protein Targeting
      • Glycoproteins: Synthesis and Clinical Consequences
      • Protein, Organelle, and Cell Turnover
    • Signal Transduction Processes
      • Growth Factors and Other Cellular Regulators
      • Secreted Factors: Tissue “Kines”
      • Signal Transduction Pathways: Overview
      • Signal Transduction Pathways: G-Proteins and GPCR
      • Signal Transduction Pathways: MAP Kinases
      • Signal Transduction Pathways: PKC Family
      • Signal Transduction Pathways: Cyclic Nucleotides and Kinases
      • Signal Transduction Pathways: Nucleotides
      • Signal Transduction Pathways: Phosphatases
      • Signal Transduction Pathways: Phospholipids
      • Signal Transduction by Wnt, TGF-β, and BMP
      • Farnesoid X Receptors, FXRs
      • Liver X Receptors, LXRs
      • Peroxisome Proliferator-Activated Receptors, PPARs
      • PPAR gamma (PPARγ) Coactivator-1 (PGC-1) Family
    • Specialized Enzymes
      • AMP-Activated Protein Kinase (AMPK): Master Metabolic Regulator
      • mTOR Complexes
      • Cytochrome P450 (CYP) Enzymes
      • Dipeptidyl Peptidase 4: DPP4
      • 2-Oxoglutarate and Fe2+-Dependent Dioxygenases
    • Tools of Molecular Medicine
      • Molecular Biology in Medicine
  • Specialized Topics
    • Adipose Tissue & Obesity
      • Adipose Tissue: Not Just Fat
      • Obesity: Metabolic and Clinical Consequences
      • The Metabolic Syndrome: MetS
    • Biochemistry of the Nervous System
      • Biochemistry of Nerve Transmission
      • Endocannabinoids in Feeding Behavior and Energy Homeostasis
      • Opioids: Roles in Analgesia and Feeding Behavior
    • Cancer
      • Proto-Oncogenes and Cancer
      • Tumor Suppressor Genes and Cancer
      • Metabolic Alterations Associated with Cancer
      • BRCA1: Breast and Ovarian Cancer Susceptibility Gene
    • Gut & Brain Interactions
      • Gut Microbiota: Regulation of Whole Body Homeostasis
      • Gut-Brain Interrelationships and Control of Feeding Behavior
    • Regulation of Feeding Behaviors
      • Regulation of Feeding Behaviors
      • Gut-Brain Interrelationships and Control of Feeding Behavior
      • Endocannabinoids in Feeding Behavior and Energy Homeostasis
      • Opioids: Roles in Analgesia and Feeding Behavior
    • Hemostasis: Blood Coagulation
      • Hemostasis: Biochemistry of Blood Coagulation
    • Hormones: Steroid & Peptide
      • Table of Major Human Hormones
      • Peptide Hormones and Their Receptors
      • Steroid Hormones and Their Receptors
      • Secreted Factors: Tissue “Kines”
    • Insulin & Diabetes
      • Insulin Function, Insulin Resistance, and Food Intake Control of Secretion
      • Diabetes: Type 1 and Type 2
      • Diabetic Ketoacidosis: DKA
      • Dipeptidyl Peptidase 4: DPP4
    • Muscle Biochemistry
      • Biochemistry of Skeletal, Cardiac, and Smooth Muscle
      • Skeletal and Cardiac Muscle Excitability
    • Nutrition
      • Vitamins: Water and Fat Soluble
      • Vitamin B3: Metabolism and Functions
      • Minerals: Critical Micronutrients
      • Digestion and Digestive Processes
      • NADPH: Reductive Biosynthesis and Cellular Redox Control
    • Renal Biochemistry
      • Renal Transporters: Biochemistry, Physiology, Pharmacology, Pathology
    • Specialized Enzymes
      • 2-Oxoglutarate and Fe2+-Dependent Dioxygenases
      • AMP-Activated Protein Kinase (AMPK): Master Metabolic Regulator
      • mTOR Complexes
      • Cytochrome P450 (CYP) Enzymes
      • Dipeptidyl Peptidase 4: DPP4
    • Hypoxia and Metabolism
      • Hypoxia and Metabolism
    • Plant-Based Therapeutics
      • Herbal Therapeutics
      • Plant-Derived Phytochemicals and Antioxidants
  • Diseases and Disorders
    • Congenital Disorders of Glycosylation
      • Congenital Disorders of Glycosylation, CDG
    • Connective Tissue Disorders
      • Ehlers-Danlos Syndromes
      • Marfan Syndrome
      • Osteogenesis Imperfecta
    • Disorders of Red Blood Cells
      • Sickle Cell Anemia
      • Thalassemias: α-Thalassemias
      • Thalassemias: β-Thalassemias
    • Disorders of Coagulation Factors
      • Bernard-Soulier Syndrome (Giant Platelet Syndrome)
      • Factor V Leiden Thrombophilia
      • Factor X Deficiency
      • Factor XI Deficiency
      • Factor XII Deficiency
      • Factor XIII Deficiency
      • Glanzmann Thrombasthenia
      • Hemophilia A
      • Hemophilia B
      • Protein C Deficiency
      • von Willebrand Disease
    • Diseases Associated with DNA Abnormalities
      • Ataxia Telangiectasia, AT
      • BRCA1: Breast and Ovarian Cancer Susceptibility Gene
      • Trinucleotide Repeat Disorders
        • Trinucleotide and other DNA Repeat Disorders
        • Dentatorubral-Pallidoluysian Atrophy, DRPLA
        • Fragile X Syndrome
        • Fragile XE Syndrome
        • Friedreich Ataxia, FRDA
        • Huntington Disease, HD
        • Myotonic Dystrophy, DM1
        • Spinobulbar Muscular Atrophy, SBMA
        • Spinocerebellar Ataxias, SCA
      • Imprinted Genes or Loci and Disease
        • Angelman Syndrome
        • Beckwith-Wiedemann Syndrome, BWS
        • Prader-Willi Syndrome
      • Xeroderma Pigmentosum, XP
    • Diseases of Amino Acid and Organic Acid Metabolism
      • Organic Acidurias/Acidemias
      • Alkaptonuria
      • Branched-Chain Amino Acid Metabolism Disorders
      • Cystinuria
      • Glutaric Aciduria Type 1
      • Hartnup Disorder
      • Homocysteinemia / Homocystinuria
      • Isovaleric Acidemia
      • Lysinuric Protein Intolerance (LPI)
      • Maple Syrup Urine Disease (MSUD)
      • Methylmalonic Acidemias/Acidurias
      • Phenylketonuria: PKU
      • Propionic Acidemia
      • Tyrosinemia
    • Diseases of Carbohydrate Metabolism
      • Glycogen Storage Diseases
        • Andersen Disease: Type 4 Glycogen Storage Disease
        • Cori Disease: Type 3 Glycogen Storage Disease
        • McArdle Disease: Type 5 Glycogen Storage Disease
        • Pompe Disease: Type 2 Glycogen Storage Disease
        • von Gierke Disease: Type 1 Glycogen Storage Disease
      • Fructose Metabolism Disorders
      • Galactose Metabolism Disorders
      • Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency
      • Pyruvate Kinase Deficiency: Erythrocyte
      • GLUT1 Deficiency Syndrome, GLUT1DS
      • Lafora Disease
      • Pyruvate Carboxylase Deficiency
      • Pyruvate Dehydrogenase Complex Deficiencies
    • Diseases of Cholesterol and Lipoprotein Metabolism
      • Familial Hypercholesterolemia (FH)
      • Abetalipoproteinemia, ABL: MTTP mutations
      • Familial Chylomicronemia Syndrome
      • Familial Combined Hypolipidemia: ANGPTL3 mutations
      • Familial Hypobetalipoproteinemia Syndrome, FHBL: APOB truncation mutations
      • Familial Hypobetalipoproteinemia Syndrome, FHBL: PCSK9 loss-of-function mutations
      • Familial LCAT Deficiency: FLD (Fish Eye Disease)
      • Lipoprotein(a) and Atherogenesis
      • Smith-Lemli-Opitz Syndrome, SLOS
      • Tangier Disease: Familial High-Density Lipoprotein Deficiency
    • Diseases of Hormone Synthesis or Function
      • Addison Disease
      • Congenital Adrenal Hyperplasias
      • Cushing Syndrome and Cushing Disease
      • Graves Disease
    • Disorders of Fatty Acid Metabolism
      • Carnitine Deficiency, Systemic Primary
      • Carnitine Palmitoyltransferase 2 (CPT2) Deficiency
      • Carnitine Palmitoyltransferase 1 (CPT1) Deficiency
      • Fatty Acid Oxidation Disorders
      • Lipid Storage Myopathies
      • Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
      • Short Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
      • Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
    • Disorders of Metal Transport and Metabolism
      • Hemochromatosis
      • Menkes Disease
      • Wilson Disease
    • Disorders of Mucopolysaccharide Metabolism
      • Hunter Syndrome, MPS II
      • Hurler and Scheie Syndromes
      • Maroteaux-Lamy Syndrome, MPS VI
      • Morquio Syndromes Type A and B (MPS IV)
      • Sanfilippo Syndrome Types A, B, C, and D (MPS III)
      • Sly Syndrome, MPS VII
    • Disorders of Nucleotide Metabolism
      • Gout: Hyperuricemia
      • Hyperuricemia and Gout
      • Lesch-Nyhan Syndrome
      • Severe Combined Immunodeficiency Disease, SCID
    • Disorders of Oxidative Phosphorylation
      • Friedreich Ataxia, FRDA
    • Disorders of Peroxisome Biogenesis and Function
      • D-Bifunctional Protein Deficiency
      • Refsum Disease
      • Infantile Refsum Disease
      • Neonatal Adrenoleukodystrophy, NALD
      • Rhizomelic Chondrodysplasia Punctata, RCDP
      • Zellweger Syndrome
      • X-Linked Adrenoleukodystrophy, X-ALD
    • Lysosomal Storage Disorders
    • Urea Cycle Disorders
      • Urea Cycle Disorders: Overview
      • Arginase Deficiency
      • Argininosuccinate Lyase (AL) Deficiency
      • Argininosuccinate Synthetase (AS) Deficiency: Citrullinemia Type 1
      • Carbamoyl Phosphate Synthetase 1 Deficiency (CPSD)
      • Ornithine Transcarbamylase (OTC) Deficiency
    • Disorders of Glycoprotein and Glycolipid Degradation
      • Aspartylglucosaminuria, AGU
      • Fabry Disease
      • Farber Lipogranulomatosis
      • Fucosidosis
      • Galactosialidosis (Goldberg Sydrome)
      • Gaucher Disease
      • GM1 Gangliosidosis
      • GM2 Activator Deficiency (Tay-Sachs AB Variant)
      • I-Cell Disease, Mucolipidosis II
      • Krabbe Disease
      • Metachromatic Leukodystrophy, MLD
      • Niemann-Pick Diseases
      • Pseudo-Hurler Polydystrophy, Mucolipidosis III
      • Sandhoff Disease
      • Sialidosis
      • Tay-Sachs Disease
      • Alpha(α)-Mannosidosis
      • Beta(β)-Mannosidosis
    • Porphyrias and Bilirubinemias
      • Acute Intermittent Porphyria, AIP
      • ALA Dehydratase Deficient Porphyria, ADP
      • Congenital Erythropoietic Porphyria, CEP
      • Crigler-Najjar Syndromes
      • Dubin-Johnson Syndrome
      • Erythropoietic Protoporphyria, EPP
      • Gilbert Syndrome
      • Hereditary Coproporphyria, HCP
      • Porphyria Cutanea Tarda, PCT
      • Rotor Syndrome
      • Variegate Porphyria, VP
      • X-Linked Sideroblastic Anemia, XLSA
    • Neuromuscular Disorders
      • Becker Muscular Dystrophy, BMD
      • Duchenne Muscular Dystrophy, DMD
      • Spinal Muscular Atrophy, SMA
  • Alpha Listing – Diseases And Disorders
  • Resources Pages
    • Recommended Newborn Screening Panel
    • Common Blood Analysis Data
    • Abbreviations Used in The Medical Biochemistry Page
    • Glossary of Terms used in The Medical Biochemistry Page
    • References Used in The Medical Biochemistry Page
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Ataxia Telangiectasia, AT

Ataxia Telangiectasia, AT

Diseases and Disorders, Diseases Associated with DNA Abnormalities, DNA Repair Disorders

Last Updated: October 31, 2025 Introduction to Ataxia Telangiectasia Ataxia telangiectasia (AT) is an autosomal recessive disorder that is characterized by hypersensitivity to ionizing radiation, progressive truncal ataxia affecting the gait with onset by 1 to 3 years...
Refsum Disease

Refsum Disease

Diseases and Disorders, Disorders of Fatty Acid Metabolism, Disorders of Peroxisome Biogenesis and Function

Last Updated: October 30, 2025 Introduction to Refsum Disease Refsum disease (heredopathia atactica polyneuritiformis) is an autosomal recessive disorder named for Sigvald Refsum who, in 1945, initially characterized the cardinal clinical features of this disease that...

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