Cristina Oana Mărginean, Carmen Duicu, Claudia Bănescu and Ana Maria Pitea

ABSTRACT

Maple urine syrup disease (MSUD) is part of a heterogenous group of inborn errors of metabolism.

The aim of the paper was to present 2 cases of MSUD diagnosed in our clinic, their evolution and response to treatment.

Patients and method. The diagnosis was documented by determining serum and urinary aminoacids. Each case was examined and evaluated in dynamics in terms of clinical, laboratory, treatment and evolution.

Results. The MSUD onset-age in the first case was in the 5th-6h days and 3rd week for the second case (both were breastfed). The onset of clinical manifestations: lethargy, apathy, adinamy(first case), drowsiness, capping the eyes, hypotonia(second case); capricious appetite/eating disorders in both cases, intercurrent symptoms (cough, rhynorrhea in the second case, probably urosepsis in the first case).

Evolution: the first case who had a severe type: associated drowsiness, generalized weakness, sometimes alternating with bouts of tonic contractions/rigidity, tendency to opistotonus, changes in reflexes, trismus, needing mechanical ventilation and ultimately death; the second case (a milder type) had a favorable evolution dependent on hygienic-dietary and drug-treatment.

Conclusions. Since postnatal infants are apparently clinically healthy, there are no genotype-phenotype correlation, in many countries it has been added in the neonatal screening of metabolic diseases. Early diagnosis, along with specific treatment can prevent complications allowing a normal intellectual development of children with such defects.

Key words: maple urine syrup disease (MSUD), metabolic disease, child

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