BACKGROUND AND PURPOSE: Brain creatine (Cr) deficiencies (BCr-d) are rare disorders
of creatine biosynthesis and transport. We performed consecutive measures of total Cr (tCr) …

Creatine deficiency syndromes are a group of disorders of creatine (Cr) synthesis and
transport characterized by intellectual disability, language delay, epilepsy, autism spectrum …

Creatine deficiency syndromes, due to deficiencies in AGAT, GAMT (creatine synthesis
pathway) or SLC6A8 (creatine transporter), lead to complete absence or very strong …

Creatine deficiency syndromes are a newly described group of inborn errors of creatine
synthesis (arginine: glycine amidinotransferase (AGAT) deficiency and guanidinoacetate …

Creatine deficiency syndromes are a newly described group of inborn errors of creatine
synthesis (arginine: glycine amidinotransferase (AGAT) deficiency and guanidinoaceteate …

Recent reports highlight the utility of in vivo magnetic resonance spectroscopy (MRS)
techniques to recognize creatine deficiency syndromes affecting the central nervous system …

Since the first description of a creatine deficiency syndrome, the guanidinoacetate
methyltransferase (GAMT) deficiency, in 1994, the two further suspected creatine deficiency …

Creatine deficiency syndromes, which have only recently been described, represent a group
of inborn errors of creatine synthesis (l-arginine-glycine amidinotransferase deficiency and …

Cerebral creatine deficiency syndromes (CCDSs) are a group of inborn errors of creatine
metabolism comprising two autosomal recessive disorders that affect the biosynthesis of …

Background Treatment with oral creatine monohydrate has not shown efficacy in patients
with creatine transporter deficiency (CRTR-D). Another therapeutic option proposed is l …