What is glutaric aciduria type 2?

Glutaric aciduria type II (GAII) is one of the conditions termed organic acidemias. Individuals with these conditions have a deficiency or absence of an enzyme that prevents the breakdown of certain chemicals (proteins and fats) in the body, resulting in the accumulation of several organic acids in the blood and urine.

What does high glutaric acid mean?

Acidity of the body tissues (metabolic acidosis), and a low blood sugar level (hypoglycemia) without an elevated level of ketones in body tissues (ketosis), occur during adulthood. Large amounts of glutaric acid in the blood and urine are caused by a deficiency of the enzyme multiple acyl-CoA dehydrogenase.

What is glutaric aciduria type 1?

Glutaric aciduria type 1 (GA1) is a rare but serious inherited condition. It means the body can’t process certain amino acids (“building blocks” of protein), causing a harmful build-up of substances in the blood and urine.

What are symptoms of MADD?

The most common symptoms are muscle weakness, exercise intolerance, and/or muscle pain, although metabolic decompensation with episodes of rhabdomyolysis can also be seen. Rarely, individuals with late-onset MADD (type III) may develop severe sensory neuropathy in addition to proximal myopathy.

Is glutaric acidemia fatal?

Some have a very severe form which appears in the neonatal period and may be fatal; individuals with this form may be born with physical abnormalities including brain malformations, an enlarged liver, kidney malformations, unusual facial features, and genital abnormalities.

How is glutaric acidemia treated?

Treatment includes a low-lysine diet, carnitine supplementaion, and emergency treatment during an fever or acute episode. GA1 is caused by mutations in the GCDH gene and is inherited in an autosomal recessive manner. GA1 is included on the newborn screening panel in most countries.

How is MADD treated?

The recommended long-term treatment of MADD includes riboflavin, carnitine, or glycine, and a low-fat, low-protein, high-carbohydrate diet, avoiding long periods of fasting (1, 2, 10–13).

What is mad anxiety?

Mixed anxiety–depressive disorder (MADD) is a diagnostic category defining patients who have both anxiety and depressive symptoms of limited and equal intensity accompanied by at least some autonomic features.

How do you test for glutaric acidemia?

In patients with signs and symptoms of glutaric aciduria type I, a specific diagnostic work-up should include quantitative analysis of GA and 3-OH-GA in urine or blood, GCDH gene mutation analysis, and/or enzyme analysis (grade D).

What is methylmalonic acidemia?

Methylmalonic acidemia is a disorder in which the body cannot break down certain proteins and fats. The result is a buildup of a substance called methylmalonic acid in the blood. This condition is passed down through families. It is one of several conditions called an “inborn error of metabolism.”

What is glutaric acidemia type 2 ( GA2 )?

Multiple acyl-CoA dehydrogenase deficiency (MADD) is also known as glutaric acidemia, type 2 (GA2).

What makes glutaric aciduria type II a recessive disease?

Glutaric aciduria type II is an autosomal recessive disease caused by changes (mutations) in the ETF-A (subunit alpha), ETF-B (subunit beta) or ETFDH genes. The mutations result in deficient or complete absence of activity of multiple acyl-CoA dehydrogenase (MADD) enzymes needed to break down fats and proteins that the body uses for energy.

How to treat glutaric acidemia type II in children?

Treatment 1 Avoidance of fasting. Infants and young children with glutaric acidemia type II should eat frequent… 2 A low-fat, low- protein, high-carbohydrate diet may be advised. 3 Riboflavin, L-carnitine and glycine supplements may be needed. 4 Alert the child’s doctor if they should become ill, as illness can trigger a metabolic crisis.

Where can I get acylcarnitine for blood work?

Acylcarnitines are available as a part of the Genetic Metabolic Panel ( test code MW) or the NBS Follow-up; Panel Methylmalonic Acidemia (MMA)/Propionic Acidemia (PA) (test code BNBSF). 000 Please send 1-2 ml frozen plasma in sodium heparin (green top tube) on dry ice for overnight delivery.

What is glutaric aciduria type 2? Glutaric aciduria type II (GAII) is one of the conditions termed organic acidemias. Individuals with these conditions have a deficiency or absence of an enzyme that prevents the breakdown of certain chemicals (proteins and fats) in the body, resulting in the accumulation of several organic acids in the blood…