What is Tyrosinemia?

18 Aug 2017

Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins.

Management of Inborn Errors of Metabolism

07 Jun 2017

The history of IEM started of when Dr. Horst Bickel found the disease phenylketonuria (PKU) in the year 1953. A child with PKU is unable to metabolize the amino acid, phenylalanine. 

What types of rare diseases that have been diagnosed and managed in Indonesia?

14 May 2017

Type I, II, III, IVA,VI,VIII Mucopolysaccharidosis, Classic phenylketonuria, 6-Pyruvil Tetrahydropterinsynthase deficiency

How to diagnose rare diseases?

14 May 2017

Parents of children with rare diseases frequently complain about these things. Diagnosing rare disease is still

What are the problems faced by health workers and parents when managing patients with a rare disease?

14 May 2017

Problems that occur when managing rare diseases are mainly due to limited number of cases (as already explained by the term

What is a rare disease?

13 May 2017

Rare diseases are life threatening or chronically debilitating diseases with a low prevalence (less than 2000 people in a population) and a high level

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