Resumo

BULLER VIQUEIRA, Eva; MUNOZ PERALTA, Francisca  e  CABELLO PULIDO, Juana. Methylmalonic Acidemia. Rev Clin Med Fam [online]. 2016, vol.9, n.3, pp.232-236. ISSN 2386-8201.

The following is the case of a 20-year-old woman in seek of professional help because of chronic motor and phonic tics which worsened when nervous and disappeared when sleeping or when distraction manoeuvres were employed. She was referred to a hospital where she was hospitalized. In examining her medical history, we found that she required hospitalization on a number of occasions during childhood before being diagnosed with methylmalonic acidemia at the age of four. Her symptoms began within the first week of life, suffering from vomiting, hypotonia, failure to thrive and asthenia. Methylmalonic acidemia is a congenital disease which provokes a defect in the enzyme methylmalonyl-CoA mutase therefore causing a build-up of methylmalonic acid. It is diagnosed by an increase of methylmalonic acid in urine samples and it is confirmed with a molecular genetic analysis. In addition to this rare illness, the patient was also diagnosed with tourettism, without determining if it was due to treatment or a chronic presentation of her pathology. Methylmalonic acidemia is a rare disease, and consequently difficult to diagnose because of its unspecific clinical manifestations and because of healthcare workers' limited awareness of it.

Palavras-chave : Methylmalonyl-CoA mutase; Methylmalonic acid; Metabolism, inborn errors; Amino acids.

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