Title A case of Maple Syrup Urine Disease

Authors Dr. Mohammed Shakkir Yousuf, Dr. Mohammed Roshan M U, Dr. Binesh
Balachandran, Dr. Mohamed Reshad, Dr. Rajeswari CM

Department of Neonatology, ASTER MIMS, KOTTAKKAL

Introduction Maple Syrup Urine Disease (MSUD) is an IEM due to deficiency of branched-
chain alpha-ketoacid dehydrogenase complex (BCKDC) in the metabolic
pathway of LEUCINE, ISOLUECINE and VALINE. Five types of MSUD have
been described viz Classic, Intermediate, Intermittent, Thiamine Responsive
and E3 Deficient MSUD.

Case Presentation We present the case of a 1.5 month old girl baby who presented to the opd
with complaints of poor activity and failure to thrive.

This was a term baby born vaginaly to a G2P1L1 mother (non-consanginous

marriage) weighing 3.12 kg with uneventful antenatal and perinatal period.
During evaluation she was found to be having seizures. Investigations ruled
out sepsis, common metabolic problems and meningitis.

In view of persisting encephalopathy MRI brain was done which showed

areas of T2 hyperintensities with restricted diffusion in bilateral white
matter areas with MRS showing reduced NAA with prominent peak at
0.9ppm thus raising the suspicion of MSUD. IEM work up and mutation
analysis was done which confirmed the diagnosis of MSUD.

Discussion Neonatal MSUD presents with irritability, poor feeding, vomiting, lethargy,
seizure and apnea, mimicking neonatal sepsis. Raised levels of plasma
branched chain amino acids and urine branch chain hydro and keto acid
confirms the diagnosis. Treatment involves special diet free in Valine,
Leucine and Isoleucine apart from managing the seizure episodes with
anticonvulsants.