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Table 4 Supportive therapeutic options in ZSDs

From: Zellweger spectrum disorders: clinical overview and management approach

Symptom/disease

Treatment/intervention

Adrenal insufficiency

Cortisone

Coagulopathy

Vitamin K suppletion

Enamel hypoplasia

Dentist referral

Epilepsy

Standard antiepileptic drugs

Hearing impairment

Hearing aids, cochlear implant

High phytanic acid plasma level

Phytanic acid restricted diet

Hyperoxaluria

Oral citrate treatment Sufficient fluid intake

Insufficient calory intake

Gastrostomy

Low levels of fat-soluble vitamins (A, D, E)

Vitamin suppletion

Visual impairment

Cataract removal, glasses and ophthalmologist referral