3-methylglutaconic aciduria type 9

3-Methylglutaconic Aciduria Type 9 (MGCA9) Description

3-Methylglutaconic aciduria type 9, also known as MGCA9, is a rare autosomal recessive disorder characterized by early-onset seizures, severely delayed psychomotor development, and intellectual disability [4][

Clinical Features and Signs of 3-Methylglutaconic Aciduria Type 9

3-methylglutaconic aciduria type 9 (MGCA9) is a rare genetic disorder characterized by several clinical features and signs. Some of the common symptoms include:

• Early-onset seizures: Seizures are one of the earliest signs of MGCA9, often occurring in infancy or early childhood [4].
• Severely delayed psychomotor development: Children with MGCA9 may experience significant delays in their physical and mental development, including delayed speech and language skills [4].
• Delayed gross motor milestones: Affected individuals may have difficulty achieving normal gross motor milestones, such as sitting, standing, or walking independently [5].
• Myopathic facies: A distinctive facial appearance, often described as "myopathic," is a common feature of MGCA9 [5].
• Waddling gait and positive Gower's sign: Some individuals with MGCA9 may exhibit a characteristic waddling gait or have a positive Gower's sign, indicating muscle weakness or atrophy [5].
• Microcephaly, cataract, facial dysmorphism, growth retardation, endocrine abnormalities, and cardiomyopathy: These symptoms are less common but can also be associated with MGCA9 [6].

Mitochondrial Energy Production Impairment

3-Methylglutaconic aciduria (MGA) is a group of metabolic disorders that impair the body's ability to produce energy in the mitochondria. This impairment can lead to a wide range of clinical features and signs, including those mentioned above.

References:

[4] - 3-methylglutaconic aciduria type IX (MGCA9) is an autosomal recessive disorder characterized by early-onset seizures, severely delayed psychomotor development... [Source: EFO, MONDO, HPO. ​] [5] - Delayed gross motor milestones, myopathic facies, a waddling gait, and a positive Gower's sign are common. Occasionally patients may show moderate lactic... [Source: EFO, MONDO, HPO. ​] [6] - Microcephaly, cataract, facial dysmorphism, growth retardation, endocrine abnormalities, and cardiomyopathy have also been reported. Brain imaging may show... [Source: EFO, MONDO, HPO. ​]

Note: The references provided are based on the search results and are used to support the information presented in the answer.

Diagnostic Tests for 3-Methylglutaconic Aciduria Type 9

3-Methylglutaconic aciduria type 9 (MGCA9) is a rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Diagnostic tests for MGCA9 are crucial for accurate diagnosis and management of the condition.

Available Tests

According to available information, there are several diagnostic tests that can be used to diagnose MGCA9:

• Next-generation sequencing: This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 17 genes associated with MGCA9 [4].
• Urine organic acids test: The recommended first-tier biochemical test is urine organic acids; order OAU / Organic Acids Screen, Random, Urine. Customization of this panel and single gene testing can also be performed [7].

Other Relevant Tests

In addition to the above tests, other relevant tests that may be considered for diagnosis and management of MGCA9 include:

• Laboratory investigations: Laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria, suggestive of a mitochondrial disorder [6].
• Clinical tests: Clinical tests (18 available) can also be used to diagnose MGCA9 [1].

Genetic Testing

Genetic testing is an essential tool for diagnosing MGCA9. The test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 17 genes associated with the condition [4, 8]. This test can provide accurate diagnosis and help guide management decisions.

In summary, diagnostic tests for 3-methylglutaconic aciduria type 9 include next-generation sequencing, urine organic acids test, laboratory investigations, clinical tests, and genetic testing. These tests are crucial for accurate diagnosis and management of the condition.

Treatment Options for 3-Methylglutaconic Aciduria Type 9

According to the available information, there is no specific effective treatment for 3-methylglutaconic aciduria type IX (MGCA9). However, a low leucine or protein diet may be advised to manage the condition.

• A low leucine or protein diet can help alleviate some symptoms of MGCA9 [7].
• There is currently no specific medication or treatment that can effectively treat MGCA9 [4].

It's essential to consult with a healthcare professional for personalized medical advice and treatment. They can provide guidance on managing the condition and may recommend other supportive therapies.

Key Points:

• No specific effective treatment exists for 3-methylglutaconic aciduria type IX (MGCA9).
• A low leucine or protein diet may be advised to manage symptoms.
• Consult with a healthcare professional for personalized medical advice and treatment.

Based on the provided context, it appears that there is no information available about "3-methylglutaconic aciduria type 9". The search results only mention types I to IV.

However, if you are looking for differential diagnosis of 3-MGA type I, it can be distinguished from other forms of 3-MGA (types II, III and IV) by the presence of specific clinical features or genetic mutations.

• Patients with 3-MGA type I can be distinguished from those with other forms of 3-MGA by the absence of Barth syndrome (type II), Costeff optic atrophy syndrome (type III), and other types of 3-MGA (type IV) [7].
• The diagnosis may also be suspected based on early-onset optic atrophy and choreoathetosis, particularly in individuals of Iraqi-Jewish origin [6].

It's worth noting that the provided context does not mention type 9, but rather mentions types I to IV. If you could provide more information or clarify what you mean by "3-methylglutaconic aciduria type 9", I would be happy to try and assist you further.

References: [6] - [7]