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AGAT deficiency
ICD-10 Codes
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Description
AGAT Deficiency Description
AGAT deficiency, also known as Arginine:glycine amidinotransferase deficiency, is an inherited disorder that primarily affects the brain [2]. It is caused by changes in the GATM gene and is inherited in an autosomal recessive manner [4].
Individuals with AGAT deficiency generally have mild to moderate intellectual disability [4][8]. Other signs and symptoms may include seizures, delayed speech development, delayed motor skills development, such as sitting and walking [8], and muscle weakness [2].
AGAT deficiency is a treatable condition that primarily affects the brain. Early diagnosis may prevent IDD (Intellectual Disability Disorder) and myopathy [5]. Patients with unexplained IDD with and without muscle weakness should be tested for AGAT deficiency.
The creatine biosynthesis disorders, including AGAT deficiency, comprise three disorders: guanidinoacetate methyltransferase (GAMT) deficiency, L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency [13]. Developmental delay and cognitive dysfunction or intellectual disability and muscle weakness are characteristic features of these disorders.
References: [2] - Arginine: glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. [4] - AGAT deficiency is caused by changes in the GATM gene and is inherited in an autosomal recessive manner. [8] - Mild to moderate intellectual disabilities, delayed speech development, delayed motor skills development, such as sitting and walking [13] - The creatine biosynthesis disorders, including AGAT deficiency, comprise three disorders: guanidinoacetate methyltransferase (GAMT) deficiency, L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency.
Additional Characteristics
- muscle weakness
- seizures
- mild to moderate intellectual disability
- delayed speech development
- delayed motor skills development, such as sitting and walking
Signs and Symptoms
AGAT Deficiency Signs and Symptoms
Individuals with Arginine:Glycine Amidinotransferase (AGAT) deficiency often experience a range of symptoms, which can vary in severity and impact different aspects of their lives. Here are some common signs and symptoms associated with AGAT deficiency:
- Intellectual Disability: People with AGAT deficiency may have mild to moderate intellectual disabilities, affecting their cognitive development and ability to learn [4].
- Delayed Speech Development: Delayed speech development is a characteristic feature of AGAT deficiency, which can impact communication skills and language abilities [2][5].
- Muscle Weakness: Muscle weakness is another common symptom of AGAT deficiency, which can affect motor skills development and overall physical strength [5].
- Global Developmental Delay: Infants with AGAT deficiency may experience global developmental delay, which can manifest as delayed milestones in various areas, such as sitting, walking, or talking [2].
- Autistic-like Behavior: Some individuals with AGAT deficiency may exhibit autistic-like behavior, including social interaction difficulties and repetitive behaviors [8].
These symptoms can have a significant impact on daily life, making it essential for early diagnosis and intervention to manage the condition effectively.
Additional Symptoms
- Intellectual Disability
- Global Developmental Delay
- Delayed Speech Development
- Autistic-like Behavior
- muscle weakness
Diagnostic Tests
Diagnostic Tests for Arginine: Glycine Amidinotransferase (AGAT) Deficiency
To diagnose AGAT deficiency, several tests can be performed to assess the levels of certain metabolites in the urine and plasma. Here are some diagnostic tests that may be used:
- Urine and serum/plasma testing: This is an initial test to rule out creatine deficiency syndromes following clinical presentation [3]. Low plasma and urinary creatinine values are a diagnostic clue for AGAT and GAMT deficiency [6].
- Determination of urine/plasma GAA levels: Patients with unexplained IDD with and without myopathy should be assessed for AGAT deficiency by determination of urine/plasma GAA levels [2].
- Cerebral creatine levels: Determination of cerebral creatine levels can also help diagnose AGAT deficiency [1].
It's worth noting that testing sensitivity may increase if both plasma and urine sample types are used [8]. Additionally, genetic counseling is recommended for conditions related to AGAT deficiency [4].
References:
- [1] Arginine: glycine amidinotransferase deficiency (AGAT) is one of the three cerebral creatine deficiency syndromes (CCDS).
- [2] Patients with unexplained IDD with and without myopathy should be assessed for AGAT deficiency by determination of urine/plasma GAA levels.
- [3] Initial tests to diagnose or rule out creatine deficiency syndromes following clinical presentation; Urine and serum/plasma testing should be ...
- [4] This gene encodes AGAT, which converts arginine and glycine to ornithine and guanidinoacetate in the creatine cycle pathway. Genetic counseling. AGAT deficiency ...
- [6] Low plasma and urinary creatinine values are a diagnostic clue for AGAT and GAMT deficiency.
- [8] For the diagnosis of AGAT or GAMT deficiency, either plasma or urine can be used, although testing sensitivity may increase if both sample types ...
Additional Diagnostic Tests
- plasma testing
- plasma GAA levels
- Cerebral creatine levels
Treatment
Treatment Options for Arginine: Glycine Amidinotransferase (AGAT) Deficiency
Individuals with AGAT deficiency often benefit from early treatment with creatine supplementation, which can significantly improve their condition.
- Creatine Supplementation: Studies have shown that oral creatine monohydrate supplementation, in combination with ornithine supplementation, can lead to significant improvement in patients with AGAT and GAMT deficiencies [2][3]. A dose of 400 mg/kg per day has been employed, resulting in notable improvements [6].
- Early Intervention: Early treatment is crucial in preventing or minimizing psychomotor delay and other complications associated with AGAT deficiency. If creatine supplementation is administered early enough, seizures and failure to thrive may also be avoided [4].
Treatment Consists Of
Oral high-dose creatine monohydrate, combined with ornithine supplementation (100-800 mg/kg/day given in 3-6 doses daily) and/or other supportive therapies, has been found to be effective in managing AGAT deficiency symptoms.
- Creatine Monohydrate: This is the primary treatment for AGAT deficiency, which helps restore normal creatine levels in the body.
- Ornithine Supplementation: Ornithine is an amino acid that plays a crucial role in the synthesis of guanidinoacetate. Supplementing with ornithine can help alleviate symptoms associated with AGAT deficiency.
References
[1] S Stockler-Ipsiroglu · 2015 · Cited by 64 [2] G Fernandes-Pires · 2022 · Cited by 33 [3] JF Clark · 2015 · Cited by 61 [4] Ozempic Could Help Curb Alcoholism. [5] Drug use disorders are associated with significant costs to society due to lost productivity, premature mortality, increased health care expenditure, and costs related to criminal justice, social welfare, and other social consequences.
Recommended Medications
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Differential Diagnosis
Understanding Differential Diagnosis in AGAT Deficiency
The differential diagnosis for AGAT (Arginine:Glycine Amidinotransferase) deficiency involves considering other conditions that may present with similar symptoms. In the case of AGAT deficiency, a partially treatable condition, it is essential to rule out other genetic myopathies and cerebral creatine deficiencies.
Conditions to Consider in Differential Diagnosis
- L-Arginine:Glycine Amidinotransferase (AGAT) Deficiency: This is another creatine biosynthesis disorder that can present with similar symptoms, including developmental delay and cognitive dysfunction.
- X-linked Creatine Transporter (CRTR) Deficiency: This condition affects the transport of creatine in the brain and can also present with similar symptoms.
Diagnostic Tools
To confirm a diagnosis of AGAT deficiency, several diagnostic tools can be used:
- Brain Magnetic Resonance Spectroscopy (MRS): This non-invasive test can help identify abnormalities in brain chemistry that may indicate AGAT deficiency.
- Guanidinoacetate and Creatine Determination: Measuring the levels of guanidinoacetate and creatine in urine and plasma can also help confirm a diagnosis of AGAT deficiency.
Importance of Accurate Diagnosis
Accurate diagnosis is crucial for providing appropriate treatment and management for individuals with AGAT deficiency. By considering other conditions that may present with similar symptoms, healthcare providers can ensure that patients receive the best possible care.
References
- [3] AGAT deficiency is an autosomal recessive cerebral creatine deficiency caused by a deficiency of the enzyme arginine:glycine amidinotransferase.
- [4] The differential diagnosis in children with a cerebral creatine deficiency includes L-Arginine:glycine amidinotransferase (AGAT) deficiency and X-linked ...
- [12] If a single pathogenic variant or variants of unknown significance in GATM are identified, AGAT activity can be measured in fibroblasts 8 to confirm the diagnosis of AGAT deficiency.
Additional Differential Diagnoses
- X-linked Creatine Transporter (CRTR) Deficiency
- AGAT deficiency
Additional Information
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- disease_ontology
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- lschriml
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- 2012-05-22T11:53:57Z
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- MIM:612718
- IAO_0000115
- An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.
- oboInOwl#hasExactSynonym
- Cerebral creatine deficiency syndrome 3
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- relatedICD
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