cerebral creatine deficiency syndrome
Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.
MONDO:0100033
metabolic epilepsy
excluded_subClassOf
MONDO:0004736
inborn disorder of amino acid metabolism
is_a
MONDO:0019243
inborn disorder of energy metabolism
is_a
CCDS
exact
CDS
exact
cerebral creatine deficiency syndrome
exact
creatine deficiency syndrome
exact
SPAC26A3.17c