Arginine:glycine amidinotransferase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: CREATINE DEFICIENCY SYNDROME DUE TO AGAT DEFICIENCY
ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY AGAT DEFICIENCY
GATM DEFICIENCY
CCDS3
Number of Symptoms 15
OrphanetNr: 35704
OMIM Id: 612718
ICD-10: E72.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 9 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of creatine biosynthesis
 -Rare genetic disease
 -Rare neurologic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001992) Organic aciduria 28 / 7739
2
 (HPO:0000717) Autism 108 / 7739
3
 (HPO:0000750) Delayed speech and language development 197 / 7739
4
 (HPO:0001263) Global developmental delay 853 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0001508) Failure to thrive 454 / 7739
7
 (HPO:0012113) Abnormality of creatine metabolism 2 / 7739
8
 (HPO:0003391) Gowers sign rare [HPO:skoehler] 37 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
 (OMIM) Brain MRS shows decreased creatine content 1 / 7739
11
 (OMIM) Muscle biopsy shows fiber type variation (in some patients) 1 / 7739
12
 (HPO:0003593) Infantile onset 249 / 7739
13
 (OMIM) Mental retardation, mild to moderate 33 / 7739
14
 (OMIM) Muscle weakness, predominantly proximal 4 / 7739
15
 (OMIM) Decreased plasma and urinary guanidinoacetate (GAA) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cerebral creatine deficiency syndrome-3 is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain (Schulze, 2003). Most patients develop a myopathy characterized ...
Diagnosis OMIM Battini et al. (2006) noted that low plasma and urine levels of guanidinoacetic acid and creatine levels at birth are indicative of AGAT deficiency. Complete absence of cerebral total creatine by brain proton magnetic spectroscopy confirms the diagnosis. ...
Clinical Description OMIM Bianchi et al. (2000) reported 2 female sibs, aged 4 and 6 years, with mental retardation and severe creatine deficiency in the brain. GAMT (601240) enzyme activity was normal. Urinary guanidinoacetate concentrations were low, suggesting a deficiency of ...
Molecular genetics OMIM In the sibs reported by Bianchi et al. (2000), Item et al. (2001) identified a homozygous mutation in the GATM gene (W149X; 602360.0001). The parents were heterozygous for the mutant allele, with intermediate residual AGAT activities.

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