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One type of mutation, found almost exclusively in people of Ashkenazi Jewish heritage, affects the autonomic and sensory nervous system development causing familial dysautonomia (FD ) Another mutation causes an increased level of phenylalanine (Phe) in the bloodstream resulting in a metabolic disorder called phenylketonuria (PKU)

Tesamorelin alone is FDA-approved as EGRIFTA for a narrow indication (HIV-associated lipodystrophy)

10.2174/1381612826666200523180301 85 PerovicD.KolencD.BilicV.SomunN.DrmicD.ElabjerE.et al (2019)

The number of individual genes varies widely between species [41, 138140]