Low Creatinine: The Diagnostic Clue for a Treatable Neurologic Disorder

Abstract: A 22-month-old boy was referred for further evaluation of muscular hypotonia and mild psychomotor developmental delay. Routine neonatal screening for guanidinoacetate methyltransferase (GAMT) deficiency was done in this child, who was found to have a mildly elevated guanidinoacetate (GAA) level in the dry blood filter card on the fifth day of life.

Link to article: https://n.neurology.org/content/72/9/854.long

PubMed: https://pubmed.ncbi.nlm.nih.gov/19255414/

Authors: O.A. Bodamer, MD, F. Iqbal, MSc, A. Mu ̈hl, PhD, C. Hung, MD, D. Prayer, MD, R. Ratschmann, MD, B.C. Item, PhD

Key Terms: GAMT, Clinical Study, NBS, Diagnostic, Pediatric Patient, Male Patient