Novel compound heterozygous MPDU1 variants causing congenital disorders of glycosylation presenting with erythrokeratodermia variabilis

Congenital disorders of glycosylations (CDGs) are a class of inherited metabolic diseases. CDG-type If (OMIM: 609180), also known as mannose-P-dolichol utilization defect 1 (MPDU1)-CDG, is caused by defects in the MPDU1 gene. MPDU1-CDG patients typically present with neurodevelopmental delays, seizures, ichthyosiform dermatitis, hypotonia, facial dysmorphism, and eye defects.¹ Here, we describe the first report of an MPDU1-CDG patient, presenting with erythrokeratodermia variabilis.