Metabolic Diseases

Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)

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Do not include MeSH terms found below this term in the MeSH hierarchy.

Tree Number(s): C18.452

MeSH Unique ID: D008659

Entry Terms:

• Disease, Metabolic
• Metabolic Disease
• Diseases, Metabolic
• Thesaurismosis
• Thesaurismoses

All MeSH Categories
Diseases Category
Nutritional and Metabolic Diseases
Metabolic Diseases
Acid-Base Imbalance
Achlorhydria
Acidosis +
Alkalosis +
Bone Diseases, Metabolic
Bone Demineralization, Pathologic +
Osteoporosis +
Pseudohypoparathyroidism +
Rickets +
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn +
Hepatic Encephalopathy
Kernicterus
Mitochondrial Encephalomyopathies
Myelinolysis, Central Pontine
Reye Syndrome
Wernicke Encephalopathy
Calcium Metabolism Disorders
Calcinosis +
Decalcification, Pathologic
Hypercalcemia
Hypocalcemia +
Pseudohypoparathyroidism +
Rickets +
DNA Repair-Deficiency Disorders
Ataxia Telangiectasia
Bloom Syndrome
Cockayne Syndrome
Colorectal Neoplasms, Hereditary Nonpolyposis
Fanconi Anemia
Li-Fraumeni Syndrome
Nijmegen Breakage Syndrome
Rothmund-Thomson Syndrome
Severe Combined Immunodeficiency
Werner Syndrome
Xeroderma Pigmentosum
Glucose Metabolism Disorders
Diabetes Mellitus +
Glycosuria +
Hyperglycemia +
Hyperinsulinism +
Hypoglycemia +
Hyperlactatemia
Iron Metabolism Disorders
Hyperferritinemia
Iron Deficiencies +
Iron Overload +
Lipid Metabolism Disorders
Dyslipidemias +
Lipid Metabolism, Inborn Errors +
Lipodystrophy +
Lipomatosis +
Xanthomatosis +
Malabsorption Syndromes
Blind Loop Syndrome
Celiac Disease
Collagenous Sprue
Hyperhomocysteinemia
Lactose Intolerance
Sprue, Tropical
Steatorrhea
Whipple Disease
Metabolic Syndrome
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors +
Amino Acid Transport Disorders, Inborn +
Amyloidosis, Familial +
Brain Diseases, Metabolic, Inborn +
Carbohydrate Metabolism, Inborn Errors +
Hyperbilirubinemia, Hereditary +
Lipid Metabolism, Inborn Errors +
Lysosomal Storage Diseases +
Metal Metabolism, Inborn Errors +
Peroxisomal Disorders +
Progeria
Purine-Pyrimidine Metabolism, Inborn Errors +
Renal Tubular Transport, Inborn Errors
Steroid Metabolism, Inborn Errors +
Mitochondrial Diseases
Carbamoyl-Phosphate Synthase I Deficiency Disease
Cytochrome-c Oxidase Deficiency
Friedreich Ataxia
Leigh Disease
Mitochondrial Myopathies +
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Optic Atrophy, Autosomal Dominant
Optic Atrophy, Hereditary, Leber
Pyruvate Carboxylase Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Phosphorus Metabolism Disorders
Hyperphosphatemia
Hypophosphatemia +
Porphyrias
Porphyria, Erythropoietic
Porphyrias, Hepatic +
Proteostasis Deficiencies
Amyloidosis +
Synucleinopathies
TDP-43 Proteinopathies +
Skin Diseases, Metabolic
Lipodystrophy +
Necrobiosis Lipoidica
Wasting Syndrome
HIV Wasting Syndrome
Water-Electrolyte Imbalance
Dehydration
Hypercalcemia
Hyperkalemia
Hypernatremia
Hypocalcemia
Hypokalemia
Hyponatremia
Inappropriate ADH Syndrome
Water Intoxication