Annals of Indian Academy of Neurology
  Users Online: 1019 Home | About the Journal | InstructionsCurrent Issue | Back IssuesLogin      Print this page Email this page  Small font size Default font size Increase font size
Year : 2020  |  Volume : 23  |  Issue : 3  |  Page : 347-351

Case series of creatine deficiency syndrome due to guanidinoacetate methyltransferase deficiency

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India

Correspondence Address:
Dr. Ratna Dua Puri
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi - 110 029
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_367_18

Rights and Permissions

Guanidinoacetate methyltransferase (GAMT) deficiency is the second most common defect in the creatine metabolism pathway resulting in cerebral creatine deficiency syndrome (CCDS). We report three patients from two unrelated families, diagnosed with GAMT deficiency on next-generation sequencing. All the probands had happy predisposition as a predominant manifestation in addition to the reported features of global developmental delay, seizures, and microcephaly. This further expands the phenotype of CCDS. The workup for creatine deficiency disorder should be included in the diagnostic algorithm for children with nonsyndromic intellectual disability, especially in those with a happy demeanor. These cases exemplify the utility of magnetic resonance spectroscopy of the brain in the workup of nonsyndromic intellectual disability to diagnose a potentially treatable disorder. In addition, documentation of low serum creatinine may be supportive. Early diagnosis and treatment is essential for better prognosis.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded58    
    Comments [Add]    

Recommend this journal