Maple Syrup Urine Disease (MSUD) detected in neurologic disorders Iraqi children
Keywords:Maple syrup urine disease, Branched-chain amino acids
AbstractBackground Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, caused by a deficiency in the activity of the branched
chain alpha-keto acid dehydrogenase impairing the degradation of the branched chain amino acids (leucine, isoleucine and valine).
Objective To examine the demographic and neurological profile in a case of MSUD.Patients and Methods A descriptive cross sectional study from 1 February 2014 to 1 February 2016, at Neurological ward and clinic of the Children Welfare teaching Hospital, in Baghdad, Iraq. Plasma specimens of 600 patients, with clinical suspicion of inborn error of metabolism (IEM) because of unexplained neurological deficits, unexplained developmental delay, recurrent coma and/or neuro-degeneration, MSUD were confirmed in 29 patients then clinical data of patients were reported and analyzed statistically.
Results Out of 600 patients visiting the neurological outpatient and ward, clinical and neurological findings were recorded as well as the family history and/or other symptoms suggestive of aminoacidopathy, 35 patients were confirmed their diagnosis as MSUD, 6 patients were excluded because they lost the follow up, therefore only 29 patients were enrolled, most of them (28 patients) were affected by classical MSUD, where only one patient had intermittent type. Considerable delay in diagnosis was noticed, which led to significant neurological abnormalities in most patients and the psychomotor delay was the main clinical presentation.
Conclusion In the absence of newborn screening, MSUD is not uncommon in neurologically disorder patients where MSUD was still diagnosed clinically, but delayed. The importance of clinical awareness and accurate biochemical analysis were the key tools for diagnosis and the necessity for a comprehensive national newborn screening program.