The clinical diagnosis is backed up by investigative findings. Citrulline level in blood is decreased. Mitochondrial studies or NARP mtDNA evaluation plays a role in genetic diagnosis which can also be done prenatally.
Neuropathy, ataxia, and retinitis pigmentosa
Uveitis–Glaucoma–Hyphema syndrome
Multifocal choroiditis and panuveitis
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Erythrokeratodermia with ataxia
Tubulointerstitial nephritis and uveitis
Arthrogryposis–renal dysfunction–cholestasis syndrome
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome