Disorder Screened | Effected if not screened | Effect if screened and managed | Management |
---|---|---|---|
Congenital Hypothyroidism | Severe mental retardation, intellectual disability and abnormal growth | Normal – if treatment begins in the first month after birth | Daily oral dose thyroid hormone (thyroxine) |
Congenital Adernal Hypothyroidism | Death, muscle wasting and dehyderation, Hisutism and abnormal enlargement of genitals | Normal with medication | Hydrocortisone / Liquid prednisolone in infancy and childhood prednisone or Dexamethasone in adults |
Glucose -6-phospate Dehydrogenase Deficiency | Severe Anaemia, Prolonged neonatal Jaundice, Kernicterus | Normal with dietary and medical restrictions | Immediate exclusive of dietary galactose |
Cystic Fibrosis | Chronic obstructive lung disease, airway infections, gastrointestinal abnoramalities | Dramatic improvement in the qualities of life with early diagnosis, treatment and diet management | Phenylalanine – restricted food with proper dietary control under close supervision of the dietician / physician, lifelong |
Biotinidase Deficiency | Hypotonia, ataxia, seizures, development delays, vision/hearing loss, alopecia, dermatitis | Normal with supplements | Oral Biotin adminstration. This treatment is lifelong and highly effective |
1 in 1500 to 3000 newborns suffer from Inborn Errors of Metabolism
Newborn Screening: Expanded Panel – Inborn Errors of Metabolism