X-Linked Creatine Deficiency
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Pathogenesis
- Creatine Transporter deficiency leads to creatine deficiency, which results in large energy-requiring organ dysfunction (eg, brain).
Clinical
- Presentation: Microcephaly, Midface Hypoplasia, Easy Fatigue, Neuropsychiatric manifestations (autistic phenotype).
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov