Condition | Clinical syndrome | Treatment |
Biotinidase deficiency | Seizures, skin disorders, hearing loss, ID, death | Daily biotin |
Congenital hypothyroidism | Impaired growth and intellectual development | Thyroid hormone replacement |
Galactosemia | Cataracts, cirrhosis, ID, fatal sepsis | Eliminate lactose, use soy for newborn sepsis evaluation |
Homocystinuria | ID, osteoporosis, thromboembolic disease | Dietary restrictions, supplemental medicines |
Maple syrup urine disease | Feeding problems, vomiting, death; severe ID | Branched-chain amino acids/dietary restrictions |
Phenylketonuria | ID, seizures, eczema | Phenylalanine-restricted diet |
Congenital toxoplasmosis | Hydrocephalus, ID, splenomegaly, ascites | One year of regimented antibiotics, infectious disease consult |
Newborn hearing screen | Global delay in cognitive and social development | Hearing aids Special Education |
آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟