[Intermittent acute porphyria in the region of Murcia].
Forty-three cases of intermittent acute porphyria (IAP) in 19 families grouped along the riverside of the Segura River in the region of Murcia (1,000,000) were collected. Twenty nine cases had the typical clinical manifestations of the disease, 22 with analytic confirmation. Fourteen asymptomatic disease carriers were detected by determination of the uro-synthetase activity. Out of 22 hospitalized patients, 18 presented neurologic manifestations, 13 with polyneuropathy mainly of the proximal type. In some cases weakness extended distally. In the few cases in whom the polyneuropathy was initially distal there was never a Landry type of ascent. The most severe cases of polyneuropathy left characteristic sequelae in the hands.
Fernández-Barreiro
A
A
Unidad Docente de Neurología, Hospital Universitario Virgen de la Arrixaca, Murcia.
Carmena Rodríguez
R
R
Martínez Hernández
P
P
D000328:Adult; D005260:Female; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000378:metabolism; D008297:Male; D001523:Mental Disorders / Q000209:etiology; D017118:Porphyria, Acute Intermittent / Q000150:complications / Q000201:enzymology / Q000453:epidemiology*; D011524:Protoporphyrins / Q000378:metabolism; D013030:Spain / Q000453:epidemiology
D011524:Protoporphyrins; D011163:Hydroxymethylbilane Synthase