Maple syrup urine disease of neonates: report of two cases and review of literature / 中华儿科杂志
Chinese Journal of Pediatrics
;
(12): 680-684, 2010.
Artigo
em Chinês
| WPRIM
| ID: wpr-231262
ABSTRACT
<p><b>OBJECTIVE</b>To analyze and summarize clinical manifestation of maple syrup urine disease (MSUD) of neonates.</p><p><b>METHODS</b>Data of two cases with neonatal MSUD and the reports of 15 cases seen in the past 15 years in China were reviewed and analyzed.</p><p><b>RESULTS</b>There was an increasing number of reports of cases with neonatal MSUD. All the 17 cases had the symptom of poor feeding between 3 h and 8 d after birth; 7 cases had family history; 14 cases showed progressive neurologic signs. Odor of maple syrup occurred in 8 cases. Blood levels of branched-chain amino acids (BCAA) significantly increased in 13 cases and 6 neonates were diagnosed using tandem mass spectrometry. Urinary levels of BCAA and metabolite elevated in 12 cases and 5 neonates were diagnosed using gas chromatography-mass spectrometry. MRI/CT demonstrated abnormal signal in 10 cases. Twelve cases died or their parents gave up treatment and one case had cerebral palsy; 4 cases were treated with BCAA-free formula milk and showed improved outcome.</p><p><b>CONCLUSION</b>Newborns with MSUD often had early appeared non-specific symptoms with poor feeding and lethargy, most cases later showed an odor resembling maple syrup and neurologic signs. For patients who were suspected of having MSUD, blood and urine concentrations of BCAA should be tested for early diagnosis. Specific MRI edema signal from brain suggests the possibility of MSUD. Early intervention and treatment after diagnosis, with compliance of parents, would improve the patient's outcome.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Urina
/
Sangue
/
Diagnóstico
/
Aminoácidos de Cadeia Ramificada
/
Doença da Urina de Xarope de Bordo
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Humanos
/
Masculino
/
Recém-Nascido
Idioma:
Chinês
Revista:
Chinese Journal of Pediatrics
Ano de publicação:
2010
Tipo de documento:
Artigo
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