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Guanidinoacetat-Methyltransferase-Mangel (GAMT)

Which enzymes are involved?

guanidinoacetate-methyltransferase

Disease	CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2; GAMT DEFICIENCY
Synonym	GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY (GAMT)
OMIM	612736 OMIM = Online Mendelian Inheritance of Men
Orphanet	382
Protein (UniProt)	guanidinoacetate-methyltransferase
ExPASy	2.1.1.2
Gene locus	19p13.3
ICD	E72.8
Summary	rare autosomal recessive mutation in the GAMT gene
Laboratory findings	Creatine normal/dec (plasma) Guanidinoacetic acid / Guanidinoacetate inc (serum) Guanidinoacetic acid / Guanidinoacetate inc (urine) Creatine dec (urine) 3-Methylglutaconic acid inc (urine) Creatine decreased (cerebrospinal fluid) Creatinine dec (urine) Creatinine dec (plasma) Creatinine dec (cerebrospinal fluid) Guanidinoacetate-methyltransferase dec (liver) Uric acid inc (serum)
Symptoms	behavior, autism or autistic-like epilepsy speech development, delayed, abnormal developmental delay abnormal movement basal ganglia, changes, lesions, calcifications (MRI, CT) osteoporosis ataxia behavior, self-mutilating or destructive dystonia EEG abnormalities [-] extrapyramidal signs failure to thrive hypotonia infections (severe or recurrent) learning disability mental retardation motor retardation MRI, brain, abnormalities [-] MRS, brain, abnormalities onset, infancy progressive neurologic defect seizures