Living with Porphobilinogen synthase deficiency
An extremely rare inherited form of porphyria that causes attacks affecting the nerves and abdomen, without skin symptoms.
Understanding Porphobilinogen synthase deficiency
It causes attacks that affect the nerves and organs (neuro-visceral attacks) without skin symptoms. It usually starts in childhood or the teen years. Symptoms can include stomach pain, muscle weakness and nerve problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stomach pain
- Muscle weakness
- Nerve damage in the arms and legs (peripheral neuropathy)
- Nervous system problems
- Purple urine
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, digestive system specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in ALAD are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
American Porphyria Foundation, United Porphyrias Association and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: American Porphyria Foundation, United Porphyrias Association, The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with American Porphyria Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ALAD gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: acute hepatic porphyria; ala dehydratase deficiency porphyria; alad porphyria; alad-related hepatic porphyria; alad-related porphyria; aladh deficiency
Patient organizations
- American Porphyria FoundationPorphobilinogen synthase deficiency · United States
- United Porphyrias AssociationPorphobilinogen synthase deficiency · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Porphobilinogen synthase deficiency.
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