DIAGNOSTIC CHALLENGE
A 16-year-old female presents with severe acute epigastric and periumbilical abdominal pain, as well as repetitive vomiting.
HOW WOULD YOU SOLVE THE CASE?
WHAT IS ACUTE INTERMITTENT PORPHYRIA?
Acute intermittent porphyria (AIP) is a rare inherited disease caused by a partial deficiency of the enzyme porphobilinogen (PBG) deaminase in the heme biosynthetic pathway.
PBG deficiency disrupts normal heme production, which leads to overproduction of porphyrin precursors.
Abdominal pain, the most common symptom, is usually severe, unremitting, and diffuse.
For more information, visit www.DiagnosingAIP.ca
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WHAT IS HYPERAMMONEMIA?
Hyperammonemia is characterized by excess ammonia in the blood and is the result of an imbalance between ammonia detoxification capacity and protein catabolism. Inherited causes of hyperammonemia include:
- The deficiency of the hepatic enzyme N-acetylglutamate synthase (NAGS)
- Propionic acidemia (PA)
- Methylmalonic acidemia (MMA)
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CORPORATE OVERVIEW
Recordati Rare Diseases is part of the Recordati Group and is dedicated to developing innovative, high-impact therapies. Our focus is mainly on those who we believe need it most — people affected by rare diseases. They serve as our top priority and sit at the centre of everything we do.
Therapeutic areas of focus:
- Acute intermittent porphyria (AIP)
- Hyperammonemia due to N-acetylglutamate synthase (NAGS) deficiency, propionic acidemia (PA) and methylmalonic acidemia (MMA)
- Acromegaly & Cushing’s disease
- Cystinosis
- Homocystinuria
- Mycosis fungoides-type cutaneous T-cell lymphoma (MF-type CTCL)
- Patent ductus arteriosus
- Wilms’ tumour
Get in touch by visiting https://www.recordatirarediseases.com/ca/contact-us
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