Metabolism, Inborn Errors

Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.

Year introduced: 1965

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Subheadings:

Restrict to MeSH Major Topic.

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

Tree Number(s): C16.320.565, C18.452.648

MeSH Unique ID: D008661

Entry Terms:

• Errors Metabolism, Inborn
• Errors Metabolisms, Inborn
• Inborn Errors Metabolism
• Inborn Errors Metabolisms
• Metabolisms, Inborn Errors
• Metabolism Errors, Inborn
• Error, Inborn Metabolism
• Errors, Inborn Metabolism
• Inborn Metabolism Error
• Inborn Metabolism Errors
• Metabolism Error, Inborn
• Inborn Errors of Metabolism
• Metabolism Inborn Error
• Metabolism Inborn Errors

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Albinism +
Alkaptonuria
Hyperglycinemia, Nonketotic
Hyperhomocysteinemia +
Hyperlysinemias
Maple Syrup Urine Disease
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Carboxylase Deficiency +
Phenylketonurias +
Prolidase Deficiency
Propionic Acidemia
Tyrosinemias
Urea Cycle Disorders, Inborn +
Amino Acid Transport Disorders, Inborn
Hartnup Disease
Oculocerebrorenal Syndrome
Amyloidosis, Familial
Amyloid Neuropathies, Familial
Cerebral Amyloid Angiopathy, Familial
Brain Diseases, Metabolic, Inborn
Adrenoleukodystrophy
Cerebral Amyloid Angiopathy, Familial
Galactosemias
Hartnup Disease
Hepatolenticular Degeneration
Hereditary Central Nervous System Demyelinating Diseases +
Homocystinuria
Hyperglycinemia, Nonketotic
Hyperlysinemias
Leigh Disease
Lesch-Nyhan Syndrome
Lysosomal Storage Diseases, Nervous System +
Maple Syrup Urine Disease
MELAS Syndrome
Menkes Kinky Hair Syndrome
MERRF Syndrome
Mevalonate Kinase Deficiency
Oculocerebrorenal Syndrome
Phenylketonurias +
Pyruvate Carboxylase Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Refsum Disease
Refsum Disease, Infantile
Tyrosinemias
Urea Cycle Disorders, Inborn +
Zellweger Syndrome
Carbohydrate Metabolism, Inborn Errors
Congenital Disorders of Glycosylation
Fructose Metabolism, Inborn Errors +
Fucosidosis
Galactosemias
Glucosephosphate Dehydrogenase Deficiency
Glycogen Storage Disease +
Hyperoxaluria, Primary
Lactose Intolerance
Mannosidase Deficiency Diseases +
Mucolipidoses
Mucopolysaccharidoses +
Multiple Carboxylase Deficiency +
Pyruvate Metabolism, Inborn Errors +
Cytochrome-c Oxidase Deficiency
Hyperbilirubinemia, Hereditary
Crigler-Najjar Syndrome
Gilbert Disease
Jaundice, Chronic Idiopathic
Lipid Metabolism, Inborn Errors
Barth Syndrome
Hyperlipidemia, Familial Combined
Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type II +
Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type IV
Hyperlipoproteinemia Type V
Hypolipoproteinemias +
Lipidoses +
Lipodystrophy, Congenital Generalized
Smith-Lemli-Opitz Syndrome
Xanthomatosis, Cerebrotendinous
Lysosomal Storage Diseases
Aspartylglucosaminuria
Cholesterol Ester Storage Disease +
Cystinosis
Lysosomal Storage Diseases, Nervous System +
Mannosidase Deficiency Diseases +
Mucopolysaccharidoses +
Pycnodysostosis
Metal Metabolism, Inborn Errors
Hemochromatosis
Hepatolenticular Degeneration
Hypophosphatasia
Hypophosphatemia, Familial +
Menkes Kinky Hair Syndrome
Paralyses, Familial Periodic +
Pseudohypoparathyroidism +
Peroxisomal Disorders
Acatalasia
Adrenoleukodystrophy
Chondrodysplasia Punctata, Rhizomelic
Mevalonate Kinase Deficiency
Refsum Disease
Refsum Disease, Infantile
Zellweger Syndrome
Progeria
Purine-Pyrimidine Metabolism, Inborn Errors
Dihydropyrimidine Dehydrogenase Deficiency
Gout +
Lesch-Nyhan Syndrome
Renal Tubular Transport, Inborn Errors
Steroid Metabolism, Inborn Errors
Adrenal Hyperplasia, Congenital
Antley-Bixler Syndrome Phenotype
Ichthyosis, X-Linked
Mineralocorticoid Excess Syndrome, Apparent
Smith-Lemli-Opitz Syndrome

All MeSH Categories
Diseases Category
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Albinism +
Alkaptonuria
Hyperglycinemia, Nonketotic
Hyperhomocysteinemia +
Hyperlysinemias
Maple Syrup Urine Disease
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Carboxylase Deficiency +
Phenylketonurias +
Propionic Acidemia
Tyrosinemias
Urea Cycle Disorders, Inborn +
Amino Acid Transport Disorders, Inborn
Hartnup Disease
Oculocerebrorenal Syndrome
Amyloidosis, Familial
Amyloid Neuropathies, Familial
Cerebral Amyloid Angiopathy, Familial
Brain Diseases, Metabolic, Inborn
Adrenoleukodystrophy
Cerebral Amyloid Angiopathy, Familial
Galactosemias
Hartnup Disease
Hepatolenticular Degeneration
Hereditary Central Nervous System Demyelinating Diseases +
Homocystinuria
Hyperglycinemia, Nonketotic
Hyperlysinemias
Leigh Disease
Lesch-Nyhan Syndrome
Lysosomal Storage Diseases, Nervous System +
Maple Syrup Urine Disease
MELAS Syndrome
Menkes Kinky Hair Syndrome
MERRF Syndrome
Mevalonate Kinase Deficiency
Oculocerebrorenal Syndrome
Phenylketonurias +
Pyruvate Carboxylase Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Refsum Disease
Refsum Disease, Infantile
Tyrosinemias
Urea Cycle Disorders, Inborn +
Zellweger Syndrome
Carbohydrate Metabolism, Inborn Errors
Congenital Disorders of Glycosylation
Fructose Metabolism, Inborn Errors +
Fucosidosis
Galactosemias
Glucosephosphate Dehydrogenase Deficiency
Glycogen Storage Disease +
Hyperoxaluria, Primary
Lactose Intolerance
Mannosidase Deficiency Diseases +
Mucolipidoses
Mucopolysaccharidoses +
Multiple Carboxylase Deficiency +
Pyruvate Metabolism, Inborn Errors +
Hyperbilirubinemia, Hereditary
Crigler-Najjar Syndrome
Gilbert Disease
Jaundice, Chronic Idiopathic
Lipid Metabolism, Inborn Errors
Barth Syndrome
Hyperlipidemia, Familial Combined
Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type II +
Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type IV
Hyperlipoproteinemia Type V
Hypolipoproteinemias +
Lipidoses +
Lipodystrophy, Congenital Generalized
Smith-Lemli-Opitz Syndrome
Xanthomatosis, Cerebrotendinous
Lysosomal Storage Diseases
Aspartylglucosaminuria
Cholesterol Ester Storage Disease +
Cystinosis
Lysosomal Storage Diseases, Nervous System +
Mannosidase Deficiency Diseases +
Mucopolysaccharidoses +
Pycnodysostosis
Metal Metabolism, Inborn Errors
Hemochromatosis
Hepatolenticular Degeneration
Hypophosphatasia
Hypophosphatemia, Familial +
Menkes Kinky Hair Syndrome
Paralyses, Familial Periodic +
Pseudohypoparathyroidism +
Peroxisomal Disorders
Acatalasia
Adrenoleukodystrophy
Chondrodysplasia Punctata, Rhizomelic
Mevalonate Kinase Deficiency
Refsum Disease
Refsum Disease, Infantile
Zellweger Syndrome
Progeria
Purine-Pyrimidine Metabolism, Inborn Errors
Dihydropyrimidine Dehydrogenase Deficiency
Gout +
Lesch-Nyhan Syndrome
Renal Tubular Transport, Inborn Errors
Steroid Metabolism, Inborn Errors
Adrenal Hyperplasia, Congenital
Antley-Bixler Syndrome Phenotype
Ichthyosis, X-Linked
Mineralocorticoid Excess Syndrome, Apparent
Smith-Lemli-Opitz Syndrome