Article

Evaluations of exercise intolerance with cardiopulmonary exercise tests in a 24-year-old young male with obesity with tetrahydrobiopterin deficiency: A case report

2023-07-10

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Phenylketonuria (PKU) is a rare amino acid metabolism genetic disorder. Tetrahydrobiopterin (BH4) metabolism defects cause variant PKU. BH4 coenzyme deficiency disables phenylalanine metabolism into tyrosine, causing brain damage and intellectual impairment. Patients follow a low-phenylalanine diet for life, increasing the risk of obesity, hypertension, and meta...

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Literature Corpus work: 3a5b3d90-c3ae-5b5e-8ce4-baeb653c28c0
DOI: 10.21203/rs.3.rs-3119181/v1

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