Niemann-Pick disease type A

A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4.

Signs and symptoms

• Inability to walk
• Delayed CNS myelination
• Cherry red spot of the macula
• Hepatomegaly
• Elevated circulating alanine aminotransferase concentration
• Failure to thrive
• Irritability
• Feeding difficulties in infancy
• Skeletal muscle atrophy
• Elevated circulating aspartate aminotransferase concentration