Cerebral creatine deficiency
Cerebral creatine deficiencies are a small group of inherited disorders that result from defects in creatine biosynthesis and utilization. Commonly affected tissues include the brain and muscles. There are three distinct CCDs. The most common is creatine transporter defect (CTD), an X-linked disorder caused by pathogenic variants in SLC6A8. The main symptoms of CTD are intellectual disability and developmental delay, and these are caused by a lack of creatine in the brain, due to the defective transporter. There are also two enzymatic defects of creatine biosynthesis, arginine:glycine amidinotransferase deficiency (AGAT deficiency), caused by variants in GATM and guanidinoacetate methyltransferase deficiency (GAMT deficiency), caused by variants in GAMT. The single enzyme defects are both
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Cerebral creatine deficiency
Cerebral creatine deficiencies are a small group of inherited disorders that result from defects in creatine biosynthesis and utilization. Commonly affected tissues include the brain and muscles. There are three distinct CCDs. The most common is creatine transporter defect (CTD), an X-linked disorder caused by pathogenic variants in SLC6A8. The main symptoms of CTD are intellectual disability and developmental delay, and these are caused by a lack of creatine in the brain, due to the defective transporter. There are also two enzymatic defects of creatine biosynthesis, arginine:glycine amidinotransferase deficiency (AGAT deficiency), caused by variants in GATM and guanidinoacetate methyltransferase deficiency (GAMT deficiency), caused by variants in GAMT. The single enzyme defects are both
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Cerebral creatine deficiencies ...... cerebral creatine deficiency.
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medical cause
medical diagnosis
treatment
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causes
diagnosis
Blood, and urine tests, genetic testing, brain MRS
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name
Cerebral creatine deficiency
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onset
early childhood
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prognosis
variable; early treatment for ...... ignificantly improved outcomes
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symptoms
intellectual disability, developmental delay, seziures
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synonyms
CCD
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treatment
dietary modification, creatine supplementation
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hypernym
comment
Cerebral creatine deficiencies ...... ingle enzyme defects are both
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label
Cerebral creatine deficiency
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name
Cerebral creatine deficiency
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