Acute intermittent porphyria at 4 months of age

P Beauvais, ML Klein, L Denave… - Archives Francaises de …, 1976 - europepmc.org
Acute intermittent porphyria was diagnosed in a child who presented with an acute
abdomen and neurological signs of the age of four months. The diagnosis was confirmed by …

Differential diagnosis of acute abdominal pain-acute intermittent porphyria.

M Klobučić, D Šklebar, R Ivanac… - Medicinski …, 2011 - search.ebscohost.com
Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder of heme
biosynthesis in liver due to deficiency of porphobilinogen deaminase enzyme. Clinically, AIP …

[PDF][PDF] Acute porphyria: An unusual case of quadriparesis, hypertension, recurrent severe cyclic abdominal pain, and seizures

MA Gowa, SMA Abidi, M Khan, G Jamal… - JPMA. The Journal of …, 2023 - researchgate.net
Porphyria refers to a rare group of genetically inherited or acquired disorders that arise due
to reduced metabolic activity of any of the enzymes in the haem biosynthetic pathway. Defect …

Abdominal pain and syndrome of inappropriate antidiuretic hormone secretion as clinical presentation of acute intermittent porphyria.

VF ML, B Sanjurjo JR… - Revista Clinica …, 2015 - europepmc.org
Acute intermittent porphyria (AIP) is a rare condition characterized by abdominal pain and a
wide range of nonspecific symptoms. We report the case of a woman with abdominal pain …

P573 A case of insidious recurrent abdominal pain

A Spirito, E Manca, CC Guida, A Maggio, M Savino… - 2019 - adc.bmj.com
Porphyrias are a group of inherited metabolic disorders of heme biosynthesis leading to
excessive accumulation and excretion of porphyrins. The variable clinical manifestations …

SIADH as the initial manifestation of acute intermittent porphyria: A case report

KS Tony, R Joshi, P Chaudhari… - Indian Journal of …, 2021 - mansapublishers.com
Acute intermittent porphyria (AIP) is a rare autosomal dominant and the most severe form of
the inherited hepatic porphyrias, affecting mainly young women. We present the case of an …

Acute intermittent porphyria: a possible cause of abdominal pain

M Bustamante, JL Moll, JV Sarrion… - Gastroenterologia y …, 1999 - europepmc.org
Acute intermittent porphyria (AIP) is an inherited disorder of heme metabolism. It can
produce a variety of symptoms including abdominal pain. In Spain it is an uncommon …

Acute intermittent porphyria

K Sugimura - Nihon rinsho. Japanese Journal of Clinical Medicine, 1995 - europepmc.org
The clinical features of acute intermittent porphyria (AIP) are described in this chapter. AIP is
inherited as an autosomal dominant pattern of inheritance. Prevalence in Japan is 1.5 in …

[PDF][PDF] Long term follow-up of five patients with acute intermittent porphyria, case based clinical study

G Sezgin - Nobel Medicus Journal, 2016 - researchgate.net
Porphyrias are among rare group of inherited diseases emerging due to decreased
enzymes which have the role of the biosynthesis of the hem. The most common and the …

Acute intermittent porphyria

GH Sack - JAMA, 1990 - jamanetwork.com
CASE PRESENTATION Vincent J. Pompili, MD A 24-YEAR-OLD white woman was known to
have acute intermittent porphyria (AIP). She completed a normal pregnancy and delivery 16 …