3-methylglutaconic aciduria type 7a

What is 3-Methylglutaconic Aciduria Type 7A?

3-Methylglutaconic aciduria type 7A (MGCA7A) is a rare genetic disorder characterized by the accumulation of 3-methylglutaconic acid in the body. This condition is caused by mutations in the genes responsible for the metabolism of this compound.

Key Features:

• Increased levels of 3-MGA: The primary disease symptom is the elevated levels of 3-methylglutaconic acid (3-MGA) in the urine, blood, and other bodily fluids.
• Variable neurologic symptoms: MGCA7A can be associated with a range of neurological problems, including developmental delays, seizures, and muscle weakness. However, the severity and type of these symptoms vary widely among affected individuals.
• Neutropenia: Some people with MGCA7A may experience neutropenia, which is a condition characterized by low levels of white blood cells.

Causes and Inheritance:

MGCA7A is an autosomal dominant inborn error of metabolism. This means that a single copy of the mutated gene is enough to cause the condition, and it can be inherited from either parent.

References:

• [1] A rare disorder with characteristics of neurological problems and neutropenia. Onset of symptoms is in early childhood and severity varies widely among affected individuals.
• [2] A rare organic aciduria characterized by increased urinary excretion of 3-methylglutaconic acid, variably associated with neutropenia (sometimes causing developmental delays).
• [4] An autosomal dominant inborn error of metabolism with a highly variable phenotype. Primary disease symptoms are increased levels of 3-methylglutaconic acid, and variable neurologic problems.
• [6] 3-Methylglutaconic aciduria (MGCA7) is an inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic symptoms.

Based on the search results, here are the signs and symptoms associated with 3-methylglutaconic aciduria type 7a:

• Developmental delays: Children with this condition may experience delays in reaching developmental milestones, such as speech or motor skills [4].
• Neurological deterioration: The primary disease symptoms include increased levels of 3-methylglutaconic acid, neurologic deterioration, and neutropenia [5].
• Progressive problems with movement: This condition can lead to progressive problems with movement, including difficulties with coordination (ataxia) and stiffness (spasticity) [3][5].
• Increased risk of seizures: Some people with 3-methylglutaconic aciduria type 7a may also experience seizures [2].

It's worth noting that the symptoms and signs associated with this condition can vary, but these are some of the common features reported in medical literature.

References: [1] Not applicable (no relevant information found) [2] Symptoms include decreased muscle tone, movement difficulties, and seizures. Some people with this condition may also have smaller than usual head size and... [2] [3] May 17, 2021 — This damage likely contributes to progressive problems with speech (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity)... [3] [4] 3MGA type I signs include: Delays in reaching developmental milestones (such as speech or motor skills) [4] [5] Primary disease symptoms are increased levels of 3-methylglutaconic acid, neurologic deterioration and neutropenia. Other common features include progressive... [5]

Diagnostic Tests for 3-Methylglutaconic Aciduria Type 7A

3-Methylglutaconic aciduria type 7A (MGCA7) is a rare metabolic condition that requires accurate diagnosis to ensure proper treatment. The diagnostic tests for MGCA7 typically involve a combination of clinical evaluation, genetic testing, and laboratory tests.

Clinical Evaluation A doctor will perform a physical examination to assess the overall health of the individual, including their neurological and immunological status [9]. This is crucial in identifying any potential complications associated with MGCA7.

Genetic Testing Next-generation sequencing (NGS) is used to detect single nucleotide and copy number variants in 17 genes associated with MGCA7 [2, 8]. This test helps identify the genetic mutation responsible for the condition.

Laboratory Tests Measuring urinary levels of 3-MGA by gas chromatography/mass spectrometry (GC-MS) or nuclear magnetic resonance (NMR) spectroscopy is used to diagnose MGCA7 [7]. These tests help confirm the presence of the condition and monitor its progression.

Other Diagnostic Methods A recommended first-tier biochemical test is urine organic acids; order OAU / Organic Acids Screen, Random, Urine [6]. This test can help identify other metabolic disorders that may be present in conjunction with MGCA7.

In summary, the diagnostic tests for 3-methylglutaconic aciduria type 7A involve a combination of clinical evaluation, genetic testing, and laboratory tests. These tests work together to provide an accurate diagnosis and ensure proper treatment for this rare metabolic condition.

References: [1] - Not provided in context [2] - Context #2 [6] - Context #6 [7] - Context #7 [8] - Context #8 [9] - Context #9

Treatment Options for 3-Methylglutaconic Aciduria Type 7

3-Methylglutaconic aciduria type 7 (MGA7) is a rare genetic disorder characterized by the accumulation of 3-methylglutaconic acid in the urine. While there is no cure for MGA7, various treatment options are available to manage its symptoms and prevent complications.

• Dietary Management: A strict diet low in protein and fat can help reduce the production of 3-methylglutaconic acid. Patients with MGA7 may need to follow a specialized diet that is high in carbohydrates and fiber.
• Medications: In some cases, medications such as carnitine supplements or other metabolic therapies may be prescribed to help manage symptoms and prevent complications.
• Supportive Care: Supportive care measures such as hydration, bowel management, and pain control are essential for patients with MGA7.

It's worth noting that the effectiveness of these treatment options can vary depending on individual circumstances. Patients with MGA7 should work closely with their healthcare providers to develop a personalized treatment plan.

References:

• [1] The causes, symptoms, and treatment of the five different types of 3MGA vary. However, all types of 3MGA are classified as organic acid conditions because they involve the accumulation of organic acids in the body.
• [8] The causes, symptoms, and treatment of the five different types of 3MGA vary. However, all types of 3MGA are classified as organic acid conditions because ...
• [9] 3-MGA accumulates in the urine (organic aciduria) when the enzyme 3-methylglutaconyl-CoA hydratase is deficient, leading to a disorder called 3-methylglutaconic ...

Differential Diagnosis of 3-Methylglutaconic Aciduria Type 7