Articles

What is Morquio A Syndrome?

23 Nov 2017

Morquio Syndrome or type IV a mucopolysaccharidosis is a type of lysosomal storage disorder (LSD) which is inherited

What is Hunter syndrome?

23 Nov 2017

Hunter syndrome or Type II Mucopolysaccharidosis is a lysosomal storage disease which is caused due to iduronate-2-sulfatase(I2S) enzyme deficiency

What is Gaucher Disease?

22 Nov 2017

Gaucher disease is an inborn error of metabolism caused deficiency of an enzyme called glucocerebrosidase

Maple Syrup Urine Disease

18 Aug 2017

A rare inherited metabolic disease that causes abnormalities in the metabolism of certain amino acids, such as leucine, isoleucine and valine. This disease is due to deficiency of chain-branched chain enzyme alpha-keto acid dehydrogenase complex (BCKDC). The name of the disease marks the sweet-smelling urine of patients like "maple syrup".

What is Phenylketonuria?

18 Aug 2017

Phenylketonuria (PKU) is a rare inherited metabolic disease that causes the patient not to be able to metabolize an amino acid called phenylalanine

Isovaleric Acidemia

18 Aug 2017

Patients with isovaleric acidemia (IVA) are unable to break an amino acid called leucine due to deficiency of isovaleryl-CoA dehydrogenase enzymes. Leucine is one of the essential amino acids that must be met from food. The manifestation of leucine buildup occurs very acutely in the first few days of life.

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