Glutaric acidemia type 2

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Obesity, Sleep & Internal medicine
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Glutaric acidemia type 2
Glutaric acid
Synonyms	Multiple acyl-CoA dehydrogenase deficiency (MADD)
Pronounce
Specialty	Medical genetics
Symptoms	Hypotonia, hepatomegaly, hypoglycemia, metabolic acidosis
Complications	N/A
Onset	Neonatal or later in life
Duration	Lifelong
Types	N/A
Causes	Mutations in ETFA, ETFB, or ETFDH genes
Risks
Diagnosis	Genetic testing, urine organic acid analysis
Differential diagnosis	Other organic acidemias, fatty acid oxidation disorders
Prevention
Treatment	Dietary management, riboflavin supplementation
Medication
Prognosis	Variable, depending on severity
Frequency	Rare
Deaths

Autosomal recessive inheritance pattern

Glutaric acidemia type 2 (also known as GA2 or multiple acyl-CoA dehydrogenase deficiency) is a rare metabolic disorder that prevents the body from properly processing certain proteins and fats. This condition is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell have mutations.

Symptoms

The symptoms of GA2 can vary widely, ranging from life-threatening complications in infancy to mild manifestations in adulthood. Infants with GA2 often experience hypoglycemia, metabolic acidosis, and hyperammonemia. They may also have physical abnormalities such as dysmorphic facial features, congenital malformations, and hypotonia. Adults with GA2 may experience muscle weakness, fatigue, and episodes of metabolic crisis.

Causes

GA2 is caused by mutations in the ETFA, ETFB, or ETFDH genes. These genes provide instructions for making proteins that are involved in a process called mitochondrial fatty acid oxidation, which is essential for breaking down fats and proteins to produce energy.

Diagnosis

Diagnosis of GA2 is based on the detection of increased levels of certain substances in the urine and blood, such as glutaric acid, lactic acid, and ethylmalonic acid. Genetic testing can confirm the diagnosis by identifying mutations in the ETFA, ETFB, or ETFDH genes.

Treatment

Treatment for GA2 involves dietary management to limit the intake of certain fats and proteins, and medications to manage symptoms. In severe cases, organ transplantation may be considered.

Prognosis

The prognosis for individuals with GA2 varies depending on the severity of symptoms and the response to treatment. With early diagnosis and appropriate management, many individuals with GA2 can lead normal lives.

See also

• Glutaric acidemia type 1
• Inborn errors of metabolism
• Metabolic disorder

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