Guanidinoacetate Methyltransferase (GAMT) deficiency, a cerebral creatine deficiency syndrome: A rare treatable metabolic disorder

Sangeetha Yoganathan¹, Gautham Arunachal², Lisa Kratz³, Mugil Varman⁴, Sniya Valsa Sudhakar⁴, Samuel Philip Oommen⁵, Shikha Jain¹, Maya Thomas¹, Manimegalai Babuji^6
1 Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India
² Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India
³ Biochemical Genetics Laboratory, Kennedy Krieger Institute, John Hopkins Hospital, Baltimore, United States of America
⁴ Department of Radiodiagnosis, Christian Medical College, Vellore, Tamil Nadu, India
⁵ Department of Developmental Paediatrics, Christian Medical College, Vellore, Tamil Nadu, India
⁶ Department of Dietetics, Christian Medical College, Vellore, Tamil Nadu, India

Correspondence Address:
Gautham Arunachal,
Department of Human Genetics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru - 560 029, Karnataka
India

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_172_19