Glutaric Acidemia type 2

Glutaric acidemia type 2 is a rare metabolic disease affecting fatty acid and amino acid oxidation. It is characterized by increased levels of glutaric acid and other acids such as lactic acid.

Multiple acyl-CoA dehydrogenase deficiency (MADD or "Multiple acyl-CoA dehydrogenation deficiency"), known as glutaric acidemia type 2, is an autosomal recessive pathology consisting of a disorder of glutaric acid, acetyl choline, fatty acid, and amino acid metabolism.It is an autosomal recessive disorder of glutaric acid, acetylcholine, fatty acid and amino acid metabolism.

The incidence of this metabolic deficiency is estimated at 1 in 250,000 people, with large variations between countries and ethnic groups. It is most frequent in China where the presence of the c.250G>A variant has a frequency of 1.35% in the Han ethnic group.

Symptoms

It is a clinically heterogeneous disorder. The most severe manifestations of MADD usually occur during the first hours of life and involve metabolic acidosis, severe cardiomyopathy and liver disease, with or without congenital anomalies. On the other hand, milder cases manifest from infancy to adulthood with episodic metabolic decompensations, hypoketotic hypoglycemia, vomiting, muscle weakness and respiratory failure, among other symptoms.

Disease management

Avoidance of fasting and supplementation with riboflavin, L-carnitine and CoQ10. Dietary fat and protein restriction may be an effective treatment in selected patients depending on the severity of the pathology.

Emergency regimens should be available for any metabolic decompensation. Acute treatment includes hospitalization of the patient and injection of intravenous fluid, containing at least 10% dextrose, and bicarbonate therapy depending on the metabolic state.

Genes analyzed

ETFDH

Bibliography

Olsen RKJ, Olpin SE, Andresen BS, et al . ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain, 2007; 130(8):2045-54.

Pontoizeau C, Habarou F, Brassier A, et al . Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles. In: JIMD reports, 2015, p. 39-45.

Prasun P. Multiple Acyl-CoA Dehydrogenase Deficiency. 2020 Jun 18. In: Adam MP, Mirzaa GM, Pabon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.

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