1 / 1 DeCS    
Descriptor English:   Lipid Metabolism, Inborn Errors 
Descriptor Spanish:   Errores Innatos del Metabolismo Lipídico 
Descriptor Portuguese:   Erros Inatos do Metabolismo Lipídico 
Synonyms English:   Lipid Metabolism, Inborn Error  
Tree Number:   C16.320.565.398
C18.452.584.562
C18.452.648.398
Definition English:   Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. 
Indexing Annotation English:   coordinate with specific lipid /metab
History Note English:   65 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   8227 
Unique Identifier:   D008052 


   DISEASES [C]
      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] +
               Cytochrome-c Oxidase Deficiency [C16.320.565.240]
               Hyperbilirubinemia, Hereditary [C16.320.565.300] +
               Lipid Metabolism, Inborn Errors [C16.320.565.398] 
                  Barth Syndrome [C16.320.565.398.224]
                  Hyperlipidemia, Familial Combined [C16.320.565.398.450]
                  Hyperlipoproteinemia Type I [C16.320.565.398.465]
                  Hyperlipoproteinemia Type II [C16.320.565.398.481]
                  Hyperlipoproteinemia Type III [C16.320.565.398.483]
                  Hyperlipoproteinemia Type IV [C16.320.565.398.487]
                  Hyperlipoproteinemia Type V [C16.320.565.398.493]
                  Hypolipoproteinemias [C16.320.565.398.500] +
                  Lipidoses [C16.320.565.398.641] +
                  Lipodystrophy, Congenital Generalized [C16.320.565.398.745]
                  Smith-Lemli-Opitz Syndrome [C16.320.565.398.850]
                  Xanthomatosis, Cerebrotendinous [C16.320.565.398.925]
               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] +


   DISEASES [C]
      Nutritional and Metabolic Diseases [C18]
         Metabolic Diseases [C18.452]
            Acid-Base Imbalance [C18.452.076] +
            Bone Diseases, Metabolic [C18.452.104] +
            Brain Diseases, Metabolic [C18.452.132] +
            Calcium Metabolism Disorders [C18.452.174] +
            DNA Repair-Deficiency Disorders [C18.452.284] +
            Glucose Metabolism Disorders [C18.452.394] +
            Hyperlactatemia [C18.452.479]
            Iron Metabolism Disorders [C18.452.565] +
            Lipid Metabolism Disorders [C18.452.584]
               Dyslipidemias [C18.452.584.500] +
               Lipid Metabolism, Inborn Errors [C18.452.584.562] 
               Lipodystrophy [C18.452.584.625] +
               Lipidoses [C18.452.584.687] +
               Lipomatosis [C18.452.584.718] +
               Xanthomatosis [C18.452.584.750] +
            Malabsorption Syndromes [C18.452.603] +
            Metabolic Syndrome [C18.452.625]
            Metabolism, Inborn Errors [C18.452.648] +
            Mitochondrial Diseases [C18.452.660] +
            Phosphorus Metabolism Disorders [C18.452.750] +
            Porphyrias [C18.452.811] +
            Proteostasis Deficiencies [C18.452.845] +
            Skin Diseases, Metabolic [C18.452.880] +
            Wasting Syndrome [C18.452.915] +
            Water-Electrolyte Imbalance [C18.452.950] +


   DISEASES [C]
      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] +
               Hyperbilirubinemia, Hereditary [C18.452.648.300] +
               Lipid Metabolism, Inborn Errors [C18.452.648.398] 
                  Barth Syndrome [C18.452.648.398.224]
                  Hyperlipidemia, Familial Combined [C18.452.648.398.450]
                  Hyperlipoproteinemia Type I [C18.452.648.398.465]
                  Hyperlipoproteinemia Type II [C18.452.648.398.481]
                  Hyperlipoproteinemia Type III [C18.452.648.398.483]
                  Hyperlipoproteinemia Type IV [C18.452.648.398.487]
                  Hyperlipoproteinemia Type V [C18.452.648.398.493]
                  Hypolipoproteinemias [C18.452.648.398.500] +
                  Lipidoses [C18.452.648.398.641] +
                  Lipodystrophy, Congenital Generalized [C18.452.648.398.745]
                  Smith-Lemli-Opitz Syndrome [C18.452.648.398.850]
                  Xanthomatosis, Cerebrotendinous [C18.452.648.398.925]
               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] +