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Carbohydrate Metabolism, Inborn Errors
MeSH Descriptor Data 2025
Details
Qualifiers
MeSH Tree Structures
Concepts
MeSH Heading
Carbohydrate Metabolism, Inborn Errors
Tree Number(s)
C16.320.565.202
C18.452.648.202
Unique ID
D002239
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D002239
Annotation
coordinate with specific carbohydrate
/metab
but note specifics
Scope Note
Dysfunctions of
CARBOHYDRATE METABOLISM
resulting from inborn genetic mutations that are inherited or acquired in utero.
Entry Version
CARB METAB INBORN ERR
Entry Term(s)
Carbohydrate Metabolism, Inborn Error
NLM Classification #
QU 265.5.C3
Public MeSH Note
65
History Note
65
Date Established
1965/01/01
Date of Entry
1999/01/01
Revision Date
2016/07/07
Allowable Qualifiers
blood (BL)
cerebrospinal fluid (CF)
chemically induced (CI)
classification (CL)
complications (CO)
diagnosis (DI)
diagnostic imaging (DG)
diet therapy (DH)
drug therapy (DT)
economics (EC)
embryology (EM)
enzymology (EN)
epidemiology (EP)
ethnology (EH)
etiology (ET)
genetics (GE)
history (HI)
immunology (IM)
metabolism (ME)
microbiology (MI)
mortality (MO)
nursing (NU)
parasitology (PS)
pathology (PA)
physiopathology (PP)
prevention & control (PC)
psychology (PX)
radiotherapy (RT)
rehabilitation (RH)
surgery (SU)
therapy (TH)
urine (UR)
veterinary (VE)
virology (VI)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
Amino Acid Transport Disorders, Inborn [C16.320.565.151]
Amyloidosis, Familial [C16.320.565.176]
Brain Diseases, Metabolic, Inborn [C16.320.565.189]
Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
Congenital Disorders of Glycosylation [C16.320.565.202.125]
Fructose Metabolism, Inborn Errors [C16.320.565.202.251]
Fucosidosis [C16.320.565.202.303]
Galactosemias [C16.320.565.202.355]
Glucosephosphate Dehydrogenase Deficiency [C16.320.565.202.402]
Glycogen Storage Disease [C16.320.565.202.449]
Hyperoxaluria, Primary [C16.320.565.202.460]
Lactose Intolerance [C16.320.565.202.589]
Mannosidase Deficiency Diseases [C16.320.565.202.607]
Mucolipidoses [C16.320.565.202.670]
Mucopolysaccharidoses [C16.320.565.202.715]
Multiple Carboxylase Deficiency [C16.320.565.202.720]
Pyruvate Metabolism, Inborn Errors [C16.320.565.202.810]
Cytochrome-c Oxidase Deficiency [C16.320.565.240]
Hyperbilirubinemia, Hereditary [C16.320.565.300]
Lipid Metabolism, Inborn Errors [C16.320.565.398]
Lysosomal Storage Diseases [C16.320.565.595]
Metal Metabolism, Inborn Errors [C16.320.565.618]
Peroxisomal Disorders [C16.320.565.663]
Progeria [C16.320.565.753]
Purine-Pyrimidine Metabolism, Inborn Errors [C16.320.565.798]
Renal Tubular Transport, Inborn Errors [C16.320.565.893]
Steroid Metabolism, Inborn Errors [C16.320.565.925]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Metabolism, Inborn Errors [C18.452.648]
Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
Amino Acid Transport Disorders, Inborn [C18.452.648.151]
Amyloidosis, Familial [C18.452.648.176]
Brain Diseases, Metabolic, Inborn [C18.452.648.189]
Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
Congenital Disorders of Glycosylation [C18.452.648.202.125]
Fructose Metabolism, Inborn Errors [C18.452.648.202.251]
Fucosidosis [C18.452.648.202.303]
Galactosemias [C18.452.648.202.355]
Glucosephosphate Dehydrogenase Deficiency [C18.452.648.202.402]
Glycogen Storage Disease [C18.452.648.202.449]
Hyperoxaluria, Primary [C18.452.648.202.460]
Lactose Intolerance [C18.452.648.202.589]
Mannosidase Deficiency Diseases [C18.452.648.202.607]
Mucolipidoses [C18.452.648.202.670]
Mucopolysaccharidoses [C18.452.648.202.715]
Multiple Carboxylase Deficiency [C18.452.648.202.720]
Pyruvate Metabolism, Inborn Errors [C18.452.648.202.810]
Hyperbilirubinemia, Hereditary [C18.452.648.300]
Lipid Metabolism, Inborn Errors [C18.452.648.398]
Lysosomal Storage Diseases [C18.452.648.595]
Metal Metabolism, Inborn Errors [C18.452.648.618]
Peroxisomal Disorders [C18.452.648.663]
Progeria [C18.452.648.753]
Purine-Pyrimidine Metabolism, Inborn Errors [C18.452.648.798]
Renal Tubular Transport, Inborn Errors [C18.452.648.893]
Steroid Metabolism, Inborn Errors [C18.452.648.925]
Expand All
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Carbohydrate Metabolism, Inborn Errors
Preferred
Concept UI
M0003357
Scope Note
Dysfunctions of
CARBOHYDRATE METABOLISM
resulting from inborn genetic mutations that are inherited or acquired in utero.
Terms
Carbohydrate Metabolism, Inborn Errors
Preferred Term
Term UI
T006428
Date
01/01/1999
LexicalTag
NON
ThesaurusID
NLM (1965)
Carbohydrate Metabolism, Inborn Error
Term UI
T006427
Date
05/24/1990
LexicalTag
NON
ThesaurusID
NLM (1991)
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