Abstract
Creatine transporter deficiency has been described with normal or uninformative levels of creatine and creatinine in plasma, while urine has been the preferred specimen type for biochemical diagnosis. We report a cohort of untreated patients with creatine transporter deficiency and abnormal plasma creatine panel results, characterized mainly by markedly decreased plasma creatinine. We conclude that plasma should be considered a viable specimen type for the biochemical diagnosis of this disorder, and abnormal results should be followed up with further confirmatory testing.
Original language | English (US) |
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Article number | 108455 |
Journal | Molecular genetics and metabolism |
Volume | 142 |
Issue number | 1 |
DOIs | |
State | Published - May 2024 |
Keywords
- Creatine
- Creatine transporter deficiency
- Creatinine
- slc6a8
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Biochemistry
- Molecular Biology
- Genetics
- Endocrinology