CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1; CREATINE-TRANSPORTER DEFECT (CTD)

Question 1

What is  CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1; CREATINE-TRANSPORTER DEFECT (CTD)?

Accepted Answer

rare
X-linked recessive
mutation in the creatine transporter gene (SLC6A8)
prevalence of CTD in 0.2–3.5% of males with intellectual disabilities or autism

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kreatin-Transporter-Mangel, X-chromosomaler

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 300352

Question 4

Which enzymes are involved?

Accepted Answer

sodium- and chloride-dependent creatine transporter 1

Disease	CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1; CREATINE-TRANSPORTER DEFECT (CTD)
Synonym	CREATINE DEFICIENCY SYNDROME, X-LINKED
OMIM	300352 OMIM = Online Mendelian Inheritance of Men
Orphanet	52503
Protein (UniProt)	sodium- and chloride-dependent creatine transporter 1
Gene locus	Xq28
ICD	E72.8
Summary	rare X-linked recessive mutation in the creatine transporter gene (SLC6A8) prevalence of CTD in 0.2–3.5% of males with intellectual disabilities or autism
Laboratory findings	Creatine inc (urine) Creatine/creatinine ratio inc (urine) D-Glucose normal/dec (plasma) Citric acid inc (urine) Creatine uptake dec (fibroblasts) Creatinine dec (plasma)
Symptoms	behavior, autism or autistic-like epilepsy constipation developmental delay sex: male > female speech development, delayed, abnormal behavior, abnormal or bizarre, confusion dysmorphism dystonia extrapyramidal signs failure to thrive growth retardation, poor growth hypoglycemia hypotonia learning disability liver involvement or dysfunction mental retardation microcephaly (<2 SD for age) MRS, brain, abnormalities onset, childhood onset, infancy ptosis (drooping eyelid) seizures vomiting