Archives: Conditions A-Z
Fanconi anemia
Inherited bone marrow failure with congenital anomalies and high cancer risk.
Cushing disease
Chronic cortisol excess from an ACTH-secreting pituitary tumor.
Congenital adrenal hyperplasia
Cortisol synthesis defect with androgen excess and salt-wasting in classic forms.
Cystinosis
A lysosomal transport defect; cysteamine depletes intracellular cystine and slows organ damage.
Glycogen storage disease type I
Glucose-6-phosphatase deficiency with severe fasting hypoglycemia, hepatomegaly and lactic acidosis.
Galactosemia
An inborn error of galactose metabolism detected on newborn screening; lifelong galactose restriction prevents acute crises.
Dravet syndrome
A severe developmental and epileptic encephalopathy; several targeted antiseizure medicines are approved and certain sodium-channel blockers are avoided.
Creutzfeldt-Jakob disease
Rapidly progressive prion neurodegeneration with dementia, myoclonus and ataxia.