<unk> s are several inborn errors of metabolism that result from enzyme defects that affect the processing of<unk>  synthesis or breakdown within muscles, liver, and other cell types. A total of fourteen<unk> s have been described which differ from each other on the basis of genotypic and phenotypic heterogenity. Most of the<unk> s follow an autosomal recessive mode of inheritence. In 1929, Von Gierke was the first to describe<unk>  in a 8 year old girl. Glucose-6-phosphatase deficiency found in<unk>  type I is identified as first specific enzymopathy in a hereditary disorder. Majority of<unk> s are due to deficiency of specific enzymes involved in metabolism of<unk>  either in liver or muscle or both. These deficiencies commonly result in excess of<unk>  which deposits in several tissues in the body. There are a wide variety of clinical manifestations of<unk> s. However, common clinical manifestations of various<unk> s include hypoglycemia, hypotonia, muscle weakness, hepatomegaly, cardiomegaly, elevated creatine kinase, hyperlipidemia, myoglobinuria, and elevated liver aminotransferases.
Glycogen storage disease
Neutral lipid storage disease
Ceroid storage disease
Mucopolysaccharidosis
Inborn error of lipid metabolism
Sphingolipidoses
Inborn error of metabolism
Urea cycle disorder