Propranolol in acute intermittent porphyria ANAND

Acute intermittent porphyria: response of tachycardia and hypertension to propranolol.

In four young adult patients with acute attacks of acute intermittent porphyria tachycardia and hypertension were prominent features of the illness. Urinary catecholamine excretion was increased in both patients in whom it was measured. The effect of the beta-adrenergic blocking drug propranolol was assessed in each case. The dose varied from 40 to 240 mg daily. A response in the form of a redu...

Acute Intermittent Porphyria: A Diagnostic Challenge

Acute intermittent porphyria is a metabolic disorder rarely seen in prepubertal children. A delay in diagnosis of acute intermittent porphyria is common because of variable and nonspecific symptoms. We report an 8-year-old boy with right hemimegalencephaly and intractable seizures, who presented with dark-colored urine, hypertension, increasing lethargy, fluctuating seizures, and poor oral inta...

Molecular Genetics of Acute Intermittent Porphyria in Finland

Decreased red cell uroporphyrinogen I synthetase activity in intermittent acute porphyria.

Intermittent acute porphyria has recently been distinguished biochemically from other genetic hepatic porphyrias by the observation of diminished hepatic uroporphyrinogen I synthetase activity and increased delta-aminolevulinic acid synthetase activity. Since deficient uroporphyrinogen I synthetase may be reflected in nonhepatic tissues, we have assayed this enzyme in red cell hemolysates from ...

Acute intermittent porphyria with transient cortical blindness.

Acute intermittent porphyria is a hereditary disorder characterized by deficient activity of the enzyme porphobilinogen deaminase. It manifests with occasional neurovisceral crises due to overproduction of porphyrin precursors. We report a 12 year old male child with acute intermittent porphyria, who presented with encephalopathy and transient blindness of cerebral origin.