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Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Universidad Autónoma de Yucatán

2006, Number 3

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Rev Biomed 2006; 17 (3)

Update on the diagnosis and treatment of isovaleric acidemia.

Martín-Hernández I

Language: Spanish
References: 57
Page: 213-223
PDF size: 122.19 Kb.


ABSTRACT

Objectives. This work offers a theoretical and updated review about isovaleric acidemia, directed not only to medical specialists in this topic, but also to other specialists interested in the knowledge of inborn errors of metabolism.
Sources of information. Updated articles and books related to the theme. Internet search.
Results. Isovaleric acidemia is a rare autosomal recessive inborn error of leucine catabolism caused by deficiency of isovaleryl coenzyme A dehydrogenase. This enzymatic deficiency leads to severe metabolic derangement, manifested clinically as vomiting, dehydration, acidosis, seizures, coma, and death. Fundamentally, the diagnosis of this disorder consists of the measurement of various metabolites in blood and urine, and in enzyme activity analysis. With early detection the prognosis and quality of life improves greatly. Treatment consists of a low-protein diet, a specialized formula that contains no leucine, and supplements of carnitine and/or glycine.
Conclusions. Because it is rare, health care personnel and physicians have relatively little experience in dealing with this disorder. A tighter work relationship between clinicians and laboratory staff for an early diagnosis, prompt referral to a specialized center, and a better health service for our pediatric population is vital.


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