It is defined as a condition in which there is a problem in the oxidation of fatty acids which is in connection with the errors of metabolism which are present when the person is borne. There is a problem in the complex of enzyme and is referred as the medium chain acyl dehydrogenase referred as [...]

It includes the infants with SCID which have pneumonia, chronic diarrhea, and widespread skin rashes, along with the slow growth rate as compared to the healthy children. Some also suffer from the neurological problems like developmental delay, movement disorders, and hearing loss. If not treated children with this disorder usually live only a year or [...]

It is defined as a condition in which there is a metabolic disorder and is autosomal recessive in the nature. It is also known as the ADA deficiency or ADA SCID. It leads to the immune deficiency. It leads to 15 percent of all cases of the severe combined immune deficiency which refers to the [...]

It is defined as a disorder in which there is a problem in the fatty acid oxidation. It is an inborn error of the metabolism. It occurs due to the defects present in the enzyme complex to break the certain group of fatty acids and is known as the very long chain acyl co enzyme [...]

It is defined as a disorder in which there is a problem in the fatty acid oxidation. It is an inborn error of the metabolism. It occurs due to the defects present in the enzyme complex to break the certain group of fatty acids and is known as the short chain acyl co enzyme A [...]

It is defined as a condition in which there is an absence of catalase. It is also referred as an acatalasemia. It is an autosomal recessive disorder which is peroxisomal. What are the signs and symptoms of Acatalasemia? It is benign in nature. It increases the incidence of periodontal infections and can also form the [...]

It is defined as a condition in which there occurs metabolic disorder which affects the branched chain organic acid. It is a rare condition of autosomal recessive disorder. It is also known as the propionic aciduria. It is also referred as the propionyl Co A carboxylase deficiency. It is present in the early neo natal [...]

It is defined as a condition in which there occur metabolic disorders which affect the normal metabolism of the branched chain amino acid. This amino acid is known as the leucine. It is also known as the isovaleric aciduria or dehydrogenase deficiency. It is a rare condition of autosomal recessive disorder. It is a type [...]