Revista Romana de PEDIATRIE | Volumul LXI, Nr. 4, An 2012
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

Indexată BDI  |  IDB Indexed

DOI - Crossref
Similarity Check by iThenticate, worldwide No 1 professional plagiarism checking system
Ebsco Host - Medline
Google Academic
Semantic Scholar


Publicarea de articole științifice

Stimați cititori, vă reamintim că autorii primi ai articolelor științifice pot acumula 80 de credite EMC în urma publicării. Dacă un articol are mai mulți autori, cele 80 de credite [...]


RJP și SRPed oferă anual Premiul Național pentru Știință și Cercetare - pentru autorii celor mai bune articole științifice publicate [...]

Plagiatul – în actualitate

Tema plagiatului este tot mai mult discutată în ultima vreme. Apariția unor programe performante de căutare și identificare a similitudinilor între texte [...]



Maple urine syrup disease – two cases presentations

, , and


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

Full text | PDF

Leave a Reply