Which are the symptoms of Glutaryl-CoA dehydrogenase deficiency / Glutaric aciduria type 1?

Symptoms of Glutaryl-CoA dehydrogenase deficiency / Glutaric aciduria type 1

Glutaryl-CoA dehydrogenase deficiency, also known as Glutaric aciduria type 1 (GA1), is a rare genetic disorder that affects the body's ability to break down certain amino acids. This condition is caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase, which is responsible for the metabolism of the amino acids lysine, hydroxylysine, and tryptophan.

GA1 is typically diagnosed in infancy or early childhood, and its symptoms can vary widely in severity. The most common symptoms include:

• Muscle rigidity and stiffness: Infants with GA1 may exhibit muscle stiffness, making it difficult for them to move their arms and legs. This can lead to a delay in reaching developmental milestones such as sitting, crawling, and walking.



• Developmental delays: Children with GA1 often experience delays in their physical and mental development. They may have difficulty with speech, coordination, and learning new skills.



• Macrocephaly: Many individuals with GA1 have an abnormally large head size, known as macrocephaly. This is often one of the first signs of the condition and can be detected during infancy.



• Seizures: Seizures are a common symptom of GA1 and can occur at any age. These seizures may be generalized or focal, and their frequency and severity can vary.



• Dystonia: Dystonia is a movement disorder characterized by involuntary muscle contractions, causing repetitive or twisting movements. Individuals with GA1 may experience dystonia, which can affect their ability to control their movements.



• Acute encephalopathy: In some cases, individuals with GA1 may experience episodes of acute encephalopathy, which is a sudden and severe deterioration of brain function. This can lead to symptoms such as confusion, irritability, seizures, and loss of consciousness.

It is important to note that the severity and progression of symptoms can vary greatly among individuals with GA1. Some individuals may have mild symptoms and lead relatively normal lives, while others may experience more severe symptoms and require ongoing medical care and support.

Early diagnosis and treatment are crucial in managing GA1. Newborn screening programs can help identify affected infants before symptoms appear, allowing for early intervention and management strategies. Treatment typically involves a strict low-lysine diet, which restricts the intake of lysine and other amino acids that cannot be properly metabolized. Additionally, certain medications may be prescribed to help manage symptoms such as dystonia and seizures.

Overall, while GA1 is a lifelong condition, with proper management and support, individuals with this disorder can lead fulfilling lives and achieve their full potential.