E-IMD – Patient registry

Major aims of the study:

1. To describe the natural history and outcome of organic acidurias and urea cycle defects
• Acute metabolic crisis
• Long-term organ-specific complications: e.g. brain, liver, kidneys, skeletal muscle, heart muscle, pancreas
• Survival rate
• Genotype/phenotype correlation
• Variability of the disease course
• Gender effects
2. To describe and evaluate the efficacy and safety of current treatment strategies
3. To compare the diagnosis, treatment and management of affected individuals in Europe
4. To identify the major impact of a rare inherited disease for patients and their families on quality of life

Patients with any of the following diseases could be included:

A. Organic acidurias

1. Methylmalonic aciduria (MMA)
2. Propionic aciduria (PA)
3. Isovaleric aciduria (IVA)
4. Glutaric aciduria type 1 (GA1)

B. Urea cycle defects

1. N-Acetylglutamate synthase (NAGS) deficiency
2. Carbamylphosphate synthetase 1 (CPS1) deficiency
3. Ornithine transcarbamylase (OTC) deficiency
4. Citrullinemia type 1 / Argininosuccinate synthetase (ASS) deficiency
5. Argininosuccinate lyase (ASL) deficiency
6. Arginase 1 (ARG1) deficiency
7. Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome / mitochondrial ornithine transporter 1 (ORNT1) deficiency

Visits:

1. Baseline visit: once at the beginning
2. Regular visits: at least once yearly
3. Emergency (or other unscheduled) visits: unscheduled