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THE Medical Biochemistry Page

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α-Mannosidosis: lysosomal storage disease

α-Thalassemias

β-Mannosidosis: lysosomal storage disease

β-Thalassemias

Abbreviations: Definitions of abbreviations used in this site

Acute intermittent porphyria

ALA dehydratase deficient porphyria

Alkaptonuria

Amino acid metabolism

AMPK: Master metabolic regulator

Arginase deficiency: urea cycle defect

Argininosuccinate lyase deficiency: urea cycle defect

Argininosuccinate synthetase deficiency: urea cycle defect

Aspartylglucosaminuria: lysosomal storage disease

Aspirin function via lipid modulators of inflammation

Ataxia telangiectasia: defective DNA repair

Basic biochemistry of amino acids

Basic biochemistry of carbohydrates

Basic biochemistry of lipid classes

Basic biochemistry of nucleic acids

Bernard-Soulier syndrome giant platelet syndrome, blood coagulation defect

Biochemistry of nerve transmission

Blood coagulation: hemostasis

Blood tests: collection of common blood test values

Carbamoylphosphate synthetase deficiency: urea cycle defect

Cell Cycle

Cholesterol and bile acid metabolism

Congenital disorders of glycosylation (CDG): defects in glycosylation

Congenital adrenal hyperplasias (CAH): defects in adrenal steroidogenesis

Congenital erythropoietic porphyria

Crigler-Najjar syndromes: bilirubin metabolism disorders

Derivatives of amino acids

Dentatorubro-Pallidoluysian atrophy: trinucleotide repeat disorder

Diabetes: type 1 and type 2

Diabetic ketoacidosis

Diseases and Disorders: listing of pages detailing various diseases and disorders

Diseases associated with defects in bilirubin metabolism

Diseases associated with defects in blood coagulation

Diseases associated with defects in connective tissue metabolism

Diseases associated with abnormal amino acid metabolism

Diseases associated with abnormal amino acid transport

Diseases associated with defects in DNA repair

Diseases associated with defects in fatty acid oxidation

Diseases associated with defects in metal transport and homeostasis

Diseases associated with abnormal fructose and galactose metabolism

Diseases associated with defects in proteins of oxygen transport

Diseases associated with defects in peroxisome function

Diseases associated with defects in purine nucleotide metabolism

Diseases associated with defects in pyrimidine nucleotide metabolism

Diseases associated with defects in the urea cycle

DNA metabolism

Dubin-Johnson syndrome: bilirubin metabolism disorder

Ehlers-Danlos syndrome: disorder in connective tissue metabolism

Eicosanoid Metabolism: prostaglandins, thromboxanes, leukotrienes, and lipoxins

Enzyme kinetics

Erythropoietic porphyria

Extracellular matrix

Fabry disease: lysosomal storage disease

Factor X deficiency: blood coagulation defect

Factor XI deficiency: blood coagulation defect

Factor XII deficiency: blood coagulation defect

Factor XIII deficiency: blood coagulation defect

Familial hypercholesterolemia

Farber lipogranulomatosis: lysosomal storage disease

Fatty acid oxidation

Fragile X syndrome: trinucleotide repeat disorder

Fragile XE mental retardation: trinucleotide repeat disorder

Friedreich ataxia: trinucleotide repeat disorder

Fucosidosis: lysosomal storage disease

Galactosialidosis: lysosomal storage disease

Gaucher disease: lysosomal storage disease

Genomic imprinting and disease

Gilbert syndrome: bilirubin metabolism disorder

Glanzmann thrombasthenia: blood coagulation disorder

Glossary: medical and clinical terms from site

Gluconeogenesis

Glucose-6-phosphate dehydrogenase deficiency

Glycosaminoglycans and proteoglycans

Glycogen metabolism

Glycogen storage diseases listing

Glycogen storage disease 1: von Gierke disease

Glycogen storage disease 2: Pompe disease

Glycogen storage disease 3: Cori disease

Glycogen storage disease 4: Andersen disease

Glycogen storage disease 5: McArdle disease

Glycolysis

Glycoproteins: synthesis and clinical consequences

G_M1 gangliosidosis: lysosomal storage disease

G_M2 activator deficiency: lysosomal storage disease

Gout

Growth factors

Hereditary coproporphyria

Heme and porphyrin metabolism

Hemochromatosis

Hemoglobin and myoglobin

Hemophilia A

Hemophilia B

Hunter syndrome: mucopolysaccharidosis, lysosomal storage disease

Huntington disease: trinucleotide repeat disorder

Hurler-Scheie syndromes: mucopolysaccharidoses, lysosomal storage disease

Hyperlipoproteinemias

Hypolipoproteinemias

Inborn errors in metabolism listings

Infantile Refsum disease (IRD): peroxisome biogenesis disorder

Insulin function

Ionic equilibria

Krabbe disease: lysosomal storage disease

Lesch-Nyhan disease: purine nucleotide metabolism disorder

Lipid Metabolism: fatty acid, triglyceride, and phospholipid synthesis

Lipoproteins and lipoprotein associated diseases

Lysosomal storage diseases listing

Maple syrup urine disease

Marfan syndrome: disorder in connective tissue metabolism

Maroteaux-Lamy syndrome: mucopolysaccharidosis, lysosomal storage disease

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency: fatty acid oxidation disorder

Metabolism of non-glucose carbohydrates

Metachromatic leukodystrophy: lysosomal storage disease

Molecular biology tools in medicine

Morquio syndrome: mucopolysaccharidosis, lysosomal storage disease

Mucopolysaccharidoses listings

Muscle biochemistry

Myotonic dystrophy: trinucleotide repeat disorder

Niemann-Pick diseases: lysosomal storage diseases

Neonatal adrenoleukodystrophy: peroxisome biogenesis disorder

Nitrogen metabolism and the urea cycle

Nucleotide metabolism

Oncogenes

Ornithine transcarbamoylase deficiency: urea cycle disorder

Osteogenesis imperfecta: disorders in connective tissue metabolism

Oxidative phosphorylation

Pentose phosphate pathway

Peptide hormones and receptors

Phenylketonuria

Porphyria cutanea tarda

Porphyrias listing

Post-translational modification of proteins

Protein C deficiency: blood coagulation disorder

Protein structure

Protein synthesis

Pyruvate kinase deficiency

Refsum disease: defect in α-oxidation of fatty acids

Regulation of gene expression

Resources Page: Page containing links to useful resources

Rhizomelic chondrodysplasia punctata (RCPD): peroxisome biogenesis disorder

Rotor syndrome: bilirubin metabolism disorder

Sandhoff disease: lysosomal storage disease

Sanfilippo syndromes: mucopolysaccharidoses, lysosomal storage disease

Severe combined immunodeficiency, SCID: defect in purine nucleotide metabolism

Sialidosis: lysosomal storage disease

Sickle cell anemia

Signal transduction

Sly syndrome: mucopolysaccharidosis, lysosomal storage disease

Sphingolipid Metabolism: sphingomyelins and gangliosides

Spinobulbar muscular atrophy: trinucleotide repeat disorder

Spinocerebellar ataxias: trinucleotide repeat disorders

Steroid hormones

Table of peptide hormones

Tay-Sachs disease: lysosomal storage disease

TCA cycle

Thermodynamics review

Transcription

Trinucleotide repeat disorders listing

Tumor suppressors

Vitamins and co-factors

Variegate porphyria

von Willebrand disease: blood coagulation disorder

Wnts, BMPs and TGF-β signaling

Xeroderma pigmentosum: defective DNA repair

X-linked adrenoleukodystrophy: peroxisome biogenesis disorder

X-linked sideroblastic anemia: porphyrin biosynthesis disorder

Zellweger syndrome: peroxisome biogenesis disorder

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Michael W. King, Ph.D / IU School of Medicine / miking iupui.edu

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Last modified: November 5, 2009