Rare Disease

Maple Syrup Urine Disease

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".

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Isovaleric Acidemia

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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Second Rare Disease Asia Conference

Small important steps taken by Yayasan MPS dan Penyakit Langka Indonesia in helping rare disease patients brought us to the Second Rare Disease Asia Conference. This event was conducted at the Pullman Bangsar Hotel in Kuala Lumpur, Malaysia from the 17th-19th of November 2016.

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Indonesia Rare Disease Day 2016

Rare Disease Day was held on the 29th of February 2016. The theme of this event was “Voicing the Patient’s Rights in Obtaining Ease in Diagnosis and Disease Management”

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

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

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How to diagnose rare diseases?

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

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

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

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What is a rare disease?

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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