What is glutaric aciduria?

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.

How common is glutaric acidemia 1?

Frequency. Glutaric acidemia type I occurs in approximately 1 in 100,000 individuals. It is much more common in the Amish community and in the Ojibwa population of Canada, where up to 1 in 300 newborns may be affected.

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 causes glutaric aciduria type 1?

Glutaric aciduria type I (GA1) is a rare hereditary metabolic disorder caused by a deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH). It is in the group of disorders known as cerebral organic acidemias.

What causes high glutaric acid?

Glutaric aciduria type I is caused by inherited deficiency of glutaryl-CoA dehydrogenase which is involved in the catabolic pathways of L-lysine, L-hydroxylysine and L-tryptophan.

How do you lower glutaric acid?

The early diagnosis of GA-I is essential, since the metabolic symptoms can be usually prevented by carnitine supplementation and a diet that is low in lysine and tryptophan to reduce glutaric acid production, and also may include supplementation with L-carnitine, riboflavin15.

What is MADD disease?

Introduction Multiple-acyl-CoA dehydrogenase deficiency or MADD is a rare autosomal recessive disorder caused by deficiency of electron transfer flavoprotein. Late onset form of MADD typically present with slowly progressive proximal weakness, myalgia, lethargy, vomiting, hypoglycaemia and metabolic acidosis.

What does homocystinuria mean?

Homocystinuria is a genetic disorder that affects the metabolism of the amino acid methionine. Amino acids are the building blocks of life. Pectus excavatum is a condition in which the breast bone (sternum) appears sunken and the chest concave. It is sometimes called funnel chest.

What disease is GA?

Glutaric acidemia, type I (GA-1) is an inherited condition in which the body is unable to break down certain proteins properly. It is considered an organic acid condition because GA-1 can lead to a harmful amount of organic acids and toxins in the body.

How do you test for MADD?

Like other fatty acid oxidation disorders, newborn screening is one way to diagnose this problem. Newborn screening by tandem mass spectrometry of blood spots can identify the most severe cases of GA2/MADD in early infancy. An organic acid analysis of urine samples is also used for diagnostic purposes.

Is there a cure for MADD?

Management and treatment Riboflavin supplementation of 100-400 mg/day is a very effective treatment for patients with rr-MADD as is CoQ10 supplementation in some. For moderately severe cases, 3-hydroxybutyrate has been used successfully, but further studies are still needed.

How do you diagnose homocystinuria?

Tests that can detect elevated levels of homocysteine, methionine, or homocysteine in the plasma or urine may be used to help confirm a diagnosis of homocystinuria. Usually individuals will undergo genetic testing looking for changes in both copies of the CBS gene to confirm their diagnosis.