leukotriene C4 synthase deficiency (LTC4 synthase deficiency)

Pathology

• fatal neurometabolic developmental disorder

Genetics

• associated with defects in LTC4S

Clinical manifestations

• muscular hypotonia
• psychomotor retardation
• failure to thrive
• microcephaly

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis

Database

• OMIM: https://mirror.omim.org/entry/246530