Can Macrosomia or Large for Gestational Age Be Predictive of Mucopolysaccharidosis Type I, II and VI?

BackgroundThe objective of the study was to compare mean values for birth body length and weight between patients with mucopolysaccharidosis (MPS) and the general population.MethodsA retrospective analysis of birth anthropometric data was performed for patients (n = 103) with MPS I, II, and VI. Two-tailed t tests were used to compare mean values for body length and weight at birth between patients with MPS and the general population.ResultsMean values for birth body length and weight for all studied groups were greater than in the general population. For body length the differences were statistically significant. When considered individually, 53% of patients were large for gestational age (LGA) and 30% were macrosomic. The highest percentage of LGA was observed in MPS II males and MPS VI females (55% and 56%, respectively), while the highest percentage of macrosomia was observed in MPS VI males (36%).ConclusionAt the time of birth, MPS patients were larger than those in the general population. High birth weight and/or LGA can be suggestive of MPS disease and should raise suspicion aiding early disease recognition.