INTRODUCTION Non-heritable factors may have an influence on the clinical expression of monogenic inherited metabolic diseases. CASE PRESENTATION This is a case report of a man whose mother had been diagnosed late in childhood with pyridoxine responsive homocystinuria with lens dislocation and neurodevelopmental delay. These severe complications were not observed in her son who was pyridoxine ...

Inborn errors of metabolism (IEM) comprise an assorted group of inherited diseases, some of which are due to disordered lysosomal or peroxisomal function and some of which might be improved following hematopoietic cell transplantation (HCT). In these disorders the onset in infancy or early childhood is typically accompanied by rapid deterioration, resulting in early death in the more severe phe...

We report two cases of paternally inherited 15q13.3 duplications in carriers diagnosed with childhood-onset schizophrenia (COS), a rare neurodevelopmental disorder of proposed polygenic origin with onset in children before age 13. This study documents that the 15q13.3 deletion and duplication exhibit pathogenicity for COS, with both copy number variants (CNVs) sharing a disrupted CHRNA7 gene. C...

I-cell disease is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical features of this condition mimic that of Hurler disease mutation studies help in the diagnosis. We present a case of I-cell disease in a neonate with GNPTAB gene mutation.

Palmoplantar keratodermas are a heterogenous group of diseases, one of them is Papillon-Lefevre Syndrome (PLS). This rare disease is inherited as autosomal recessive and characterized by focal hyperkeratotic plaques on elbows and knees, severe periodontal disease resulting in premature loss of teeth. We report two brothers with PLS who did not have a history of this disease in their famil...