Rare Metabolic, Storage & Peroxisomal Disorders
Lysosomal, peroxisomal, organic acid, and galactose metabolism genes
This report may be useful if you or a family member experience any of these:
These genes cover the major categories of inborn errors of metabolism. Most people who carry one altered copy of these genes are healthy — but carrier status matters for reproductive planning, specific dietary adjustments, and adult-onset monitoring (especially GBA1 and Fabry disease).
- Burning or tingling pain in hands/feet since childhood (Fabry)
- Unexplained cardiac hypertrophy or early kidney disease
- Parkinson disease or dementia with Lewy bodies in self or family
- Bone pain, easy bruising, enlarged liver or spleen (Gaucher)
- Night blindness or progressive vision loss (Refsum, peroxisomal)
- Peripheral neuropathy or cerebellar ataxia of unknown cause
- Recurrent metabolic crises with illness or fasting
- Elevated lactic acid or unexplained metabolic acidosis
- Early cataracts (galactosemia-related)
- Premature ovarian insufficiency without clear cause
- Newborn screening flag for organic acid or galactose disorder
- Family history of lysosomal or peroxisomal storage disease
- Angiokeratomas (small red-purple skin spots, bathing-suit area)
- Symptoms worsen after eating large amounts of dairy or ruminant fat
Important: GBA1 heterozygotes have a 5–20x elevated Parkinson disease and dementia with Lewy bodies risk — warranting neurology awareness and lifestyle-based neuroprotection. GLA (Fabry) female carriers frequently develop cardiomyopathy, renal disease, and neuropathic pain and need regular cardiac/renal monitoring even without a formal diagnosis. PHYH (Refsum disease) carriers who are symptomatic should strictly restrict phytanic acid (ruminant dairy and meat). Any biallelic or compound heterozygous finding in this report should trigger referral to a metabolic genetics specialist.
Answer the questions below as honestly as you can — based on your own health history and your family history. Combined with your DNA, your answers help identify which pathways need the most attention and which interventions are highest priority for you.
Your Information
Click to select your DNA file, or drag and drop it here
Once you submit, your personalized PDF report will be generated and emailed to you — typically within a few minutes. Please check your spam folder if it doesn't arrive.
This report is for educational and wellness purposes only. It is not a medical diagnosis. Always discuss genetic findings with a qualified healthcare provider before making clinical decisions.