hypomagnesaemia type 4

(redirected from renal hypomagnesaemia normocalciuric)

hypomagnesaemia type 4

A rare autosomal recessive condition (OMIM:611718) characterised by massive renal hypomagnesaemia with normal levels of serum calcium and calcium excretion.

Clinical findings
Seizures, mild-to mederate psychomotor retardation, and brisk tendon reflexes.
 
Molecular pathology
Defects in EGF, which encodes epidermal growth factor, cause hypomagnesaemia type 4.