Arginine-Glycine Amidinotransferase Deficiency

mutation in GATM

Also Known As:

AGAT Deficiency; Arginine:Glycine Amidinotransferase Deficiency; Creatine Deficiency Syndrome due to AGAT Deficiency; GATM Deficiency; L-Arginine:Glycine Aminidotransferase Deficiency

Networked: 21 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Transferases: 6589
    - One-Carbon Group Transferases
      - Amidinotransferases
        Arginine-Glycine Amidinotransferase Deficiency: 21
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Arginine-Glycine Amidinotransferase Deficiency: 21
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Arginine-Glycine Amidinotransferase Deficiency: 21
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Arginine-Glycine Amidinotransferase Deficiency: 21
  - Developmental Disabilities: 700
    - Arginine-Glycine Amidinotransferase Deficiency: 21
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Arginine-Glycine Amidinotransferase Deficiency: 21
    - Communication Disorders: 246
      - Language Disorders: 247
        Speech Disorders: 259
        Arginine-Glycine Amidinotransferase Deficiency: 21
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Arginine-Glycine Amidinotransferase Deficiency: 21
      - Communication Disorders: 246
        Language Disorders: 247
        Speech Disorders: 259
        Arginine-Glycine Amidinotransferase Deficiency: 21
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Arginine-Glycine Amidinotransferase Deficiency: 21

Experts

1.	Battini, Roberta: 6 articles (01/2017 - 02/2006)
2.	Cioni, Giovanni: 3 articles (01/2017 - 06/2006)
3.	Leuzzi, Vincenzo: 3 articles (02/2013 - 02/2006)
4.	Alessandrì, M Grazia: 2 articles (01/2017 - 06/2006)
5.	Tosetti, Michela: 2 articles (01/2017 - 06/2006)
6.	Stockler-Ipsiroglu, Sylvia: 2 articles (12/2015 - 07/2014)
7.	Schulze, Andreas: 2 articles (01/2007 - 02/2003)
8.	Stromberger, C: 2 articles (01/2003 - 11/2001)
9.	Stöckler-Ipsiroglu, S: 2 articles (01/2003 - 11/2001)
10.	Arunachalam, Priyadharshini: 1 article (03/2020)

Related Diseases

1.	Guanidinoacetate methyltransferase deficiency 07/01/2014 - "Low GAA concentrations in urine, plasma, and cerebrospinal fluid are characteristic diagnostic markers for AGAT deficiency, while high GAA concentrations are characteristic markers for GAMT deficiency. " 07/01/2012 - "Three primary Cr deficiencies exists: arginine:glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency and the defect of Cr transporter SLC6A8. " 02/01/2006 - "The method was applied to spots obtained from two patients affected by GAMT deficiency, four patients affected by AGAT deficiency (including a newborn) as well as 282 healthy subjects. " 01/01/2007 - "In urine and plasma, abnormal guanidinoacetic acid (GAA) levels are found in AGAT deficiency (reduced GAA) and in GAMT deficiency (increased GAA). " 03/01/2010 - "Guanidinoacetate methyltransferase deficiency and arginine-glycine amidinotransferase deficiency are treatable by oral creatine supplementation, but patients with creatine transporter deficiency do not respond to this type of treatment."
2.	Intellectual Disability (Idiocy) 12/01/2015 - "AGAT deficiency is a treatable intellectual disability. " 05/01/2019 - "Characterized by mental retardation, language impairment, and behavioral disorders, AGAT deficiency is a treatable condition, where long-term creatine supplementation usually restores brain creatine levels and improves its clinical features. " 01/01/2017 - "Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language impairment and behavioural disorder and susceptible to supplementary Cr treatment per os. " 06/01/2006 - "Arginine:glycine amidinotransferase deficiency is a treatable inborn error of creatine synthesis, characterized by mental retardation, language impairment, and behavioral disorders. " 02/01/2013 - "AGAT deficiency is mainly characterized by mental retardation and severe language disorder without epilepsy. "
3.	Muscular Diseases (Myopathy) 07/01/2014 - "Myopathy is a distinct feature in AGAT deficiency. " 12/01/2015 - "Patients with unexplained IDD with and without myopathy should be assessed for AGAT deficiency by determination of urine/plasma GAA and cerebral creatine levels (via brain MRS), and by GATM gene sequencing." 08/01/2013 - "A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency." 08/01/2013 - "AGAT deficiency syndrome should be considered in all patients with language retardation and cognitive impairment associated to a myopathy of unknown etiology such that early diagnosis must lead to creatine supplementation to cure the myopathy and improve language and cognitive function. "
4.	Cognitive Dysfunction 08/01/2013 - "AGAT deficiency syndrome should be considered in all patients with language retardation and cognitive impairment associated to a myopathy of unknown etiology such that early diagnosis must lead to creatine supplementation to cure the myopathy and improve language and cognitive function. "
5.	Inborn Genetic Diseases (Disease, Hereditary) 06/01/2019 - "Cerebral Creatine deficiency syndromes (CCDS) include three hereditary diseases affecting the metabolism of creatine (Cr): arginine glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency and disorders of creatine transporter. "

Related Drugs and Biologics

1.	Creatine
2.	glycine amidinotransferase (arginine-glycine amidinotransferase)
3.	creatine transporter
4.	Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)
5.	glycocyamine
6.	X-linked Creatine deficiency
7.	Therapeutic Uses
8.	Methyltransferases