Inborn errors of metabolism · Class of genetic diseases · YYNN

Inborn errors of metabolism

Y? 67%

Class of genetic diseases

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Instances
1

Influences rating

Methylmalonic acidemias

Medical condition

Subclasses
6

Influencing rating

Y? 67%

Abnormal amount of lipids in the blood

Hypertriglyceridemia

High triglyceride blood levels

Inborn errors of metal metabolism

inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals

Mitochondrial disease

Disorders caused by mitochondrial dysfunction

Lysosomal storage disease

Medical condition

vitamin metabolic disorder

inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism

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0

Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of...

Instance of

class of disease

Subclass of

Genetic disorder

Metabolic disorder

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