CEREBRAL CREATINE DEFICIENCY SYNDROME 3 (GAMT, AGAT DEFICIENCY)

Question 1

What is  CEREBRAL CREATINE DEFICIENCY SYNDROME 3  (GAMT, AGAT DEFICIENCY)?

Accepted Answer

very rare
autosomal recessive
mutation in the GATM gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

L-Arginin:Glycin-Amidinotransferase-Mangel; AGAT-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 612718

Question 4

Which enzymes are involved?

Accepted Answer

arginine:glycine amidinotransferase

Disease	CEREBRAL CREATINE DEFICIENCY SYNDROME 3 (GAMT, AGAT DEFICIENCY)
Synonym	CREATINE-DEFICIENCY-SYNDROME
OMIM	612718 OMIM = Online Mendelian Inheritance of Men
Orphanet	35704
Protein (UniProt)	arginine:glycine amidinotransferase
ExPASy	2.1.4.1
Gene locus	15q15.3
ICD	E72.8
Summary	very rare autosomal recessive mutation in the GATM gene
Laboratory findings	Creatine normal/dec (urine) Creatine normal/dec (plasma) Creatine/creatinine ratio dec (urine) Creatinine dec (urine) Guanidinoacetic acid / Guanidinoacetate dec (plasma) Guanidinoacetic acid / Guanidinoacetate dec (urine)
Symptoms	speech development, delayed, abnormal behavior, autism or autistic-like developmental delay epilepsy failure to thrive abnormal movement EEG abnormalities [-] intellectual disability/intellectual developmental disorder mental retardation motor retardation muscle weakness onset, infancy seizures