What is it about?
Biotinidase deficiency is a treatable metabolic disease that can be seen with various neurological and dermatological complications.
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Why is it important?
In cases with partial biotinidase deficiency, the heel blood alanine level that can be detected in the neonatal screening program may be a leading marker in diagnosis.
Perspectives
İts important for a biomarker for diagnosis for partial biotinidase deficiency
Halil Kazanasmaz
Harran Universitesi
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This page is a summary of: Investigation of alanine, propionylcarnitine (C3) and 3-hydroxyisovalerylcarnitine (C5-OH) levels in patients with partial biotinidase deficiency, Turkish Journal of Biochemistry, July 2019, De Gruyter,
DOI: 10.1515/tjb-2018-0340.
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