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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 Pathways: Hippo Pathway in Metabolism and Growth
      • 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
    • 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
    • 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
    • Programmed Cell Death
      • Protein, Organelle, and Cell Turnover
    • Hypoxia and Metabolism
      • Hypoxia and Metabolism
    • 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
    • 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 Pathogenic Variants
      • Familial Chylomicronemia Syndrome
      • Familial Combined Hypolipidemia: ANGPTL3 Pathogenic Variants
      • Familial Hypobetalipoproteinemia Syndrome, FHBL: APOB
      • Familial Hypobetalipoproteinemia Syndrome, FHBL: PCSK9
      • 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
      • N-Acetylglutamate Synthase (NAGS) 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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Spinal Muscular Atrophy, SMA

Spinal Muscular Atrophy, SMA

Diseases and Disorders, Neuromuscular Disorders

Last Updated: September 3 2026 Introduction to Spinal Muscular Atrophy: SMA Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by deletions or pathogenic variants in the survival motor neuron 1 (SMN1) gene that encodes the protein...

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