Phenylketonuria (PKU)
Phenylketonuria (PKU for short) is a rare inherited metabolic disorder. It is caused by the lack or insufficient level of…
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E.S.PKU Metabolic Passport
This site hosts information about the E.S.PKU Metabolic Travel Passport
Information has been approved by the Scientific Advisory Committee of E.S.PKU
Maple syrup urine disease
Maple syrup urine disease (MSUD for short) is a rare inherited metabolic disease. This is a condition that affects the…
Tyrosinemia
Tyrosinemia is a rare inherited metabolic disease characterised by problems breaking down the amino acid tyrosine, which is a building…
Homocystinuria
Homocystinuria is a rare inherited metabolic disease that affects the metabolism of the amino acid methionine. Homocystinuria is incurable and…
Glutaric Aciduria Type I
Glutaric Aciduria Type I is a rare inherited metabolic disease caused by enzyme deficiency. People diagnosed with glutaric aciduria are…
Isovaleric acidaemia
Isovaleric acidaemia is a rare inherited metabolic disease. People suffering from isovaleric acidosis have insufficient levels of the enzyme that…
Methylmalonic acidaemia
Methylmalonic acidaemia and propionic acidaemia are rare metabolic diseases. Methylmalonic acidaemia and propionic acidaemia are inborn errors of metabolism characterised…