Authors:

Abstract

Background: Maple syrup urine disease (MSUD) is a rare inborn error of metabolism of branched-chain amino acids valine, leucine and isoleucine. It is characterized by neurodevelopmental disorders, encephalopathy, and a maple syrup odour in the urine. 

Objectives: To describe the clinical profile and presentations of MSUD at Children Welfare Teaching Hospital, Iraq.

Method: A descriptive retrospective cross-sectional study included patients with MSUD who were registered at Children Welfare Teaching Hospital in Iraq from February 2014 to November 2020. Patients were reviewed regarding their clinical, laboratory and socio-demographic history. 

Results: Forty patients who registered as MSUD were included in the study. Of them 19 were male and 21 were female. The median age of the first manifestation was 5.5 months, while the median age of the first diagnosis was 12 months. Parental consanguinity was seen in 87.5% of cases. Hypotonia, seizures and poor response were the common presenting symptoms of MSUD, while spasticity, global developmental delay, intellectual disability and speech delay were the common complications. Due to early diagnosis and dietary restrictions, cognitive function was normal in only two patients. Serum branched‑chain amino acids (BCAA) especially serum leucine level, was reported high among all cases at the time of diagnosis.

Conclusions: Hypotonia, seizures and poor response were the common presenting symptoms ofMSUD, while spasticity, global developmental delay, intellectual disability and speech delay were the common complications.

Sri Lanka Journal of Child Health, 2022; 51(4): 553-559

Keywords: Maple syrup urine disease, Leucine, Newborn screening, Seizures, Tandem mass spectrometry