Heidi L. Peters

Metabolic Geneticist

Female📍 Melbourne

About of Heidi L. Peters

Heidi L. Peters is a Metabolic Geneticist based in Melbourne, VIC, Australia. She works with people and families facing inherited conditions that affect how the body makes or breaks down energy and key body chemicals.


Her clinic focuses on metabolic and genetic disorders that can show up in childhood, but they can also affect adults. In many cases, symptoms can look confusing at first, like ongoing sickness, poor growth, sudden drops in energy, or repeated hospital visits. At times, the issue may link to problems such as metabolic acidosis, liver stress or liver failure, or episodes like rhabdomyolysis.


Common areas she helps with include disorders involving the brain and nerves, like Leigh syndrome and alternating hemiplegia of childhood. She also looks after people with lysosomal storage conditions, including mucopolysaccharidoses such as Hunter (MPS II), Hurler (MPS I), and Sanfilippo (MPS III). Other examples include Gaucher disease, Pompe disease, and Fabry disease. She can also be involved in care for urea cycle disorders, along with conditions like methylmalonic acididaemia and ornithine transcarbamylase deficiency, where the body needs the right steps to handle waste products.


In practice, Heidi has experience supporting diagnosis and ongoing management for a wide range of metabolic genetic conditions. She works alongside other health professionals and treats the person as a whole, not just one test result. This kind of care usually needs careful planning over time, especially when symptoms change or flare up.


Education details, publications, and clinical trial information are not listed in the profile available here. For families, that usually means the best next step is to ask what’s available locally and what options might suit their situation.


Overall, the goal is steady, practical care—helping families understand what’s going on, reduce avoidable risks, and work toward the best day-to-day health possible.

Services & Conditions Treated

Leigh SyndromeMethylmalonic AcidemiaMucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome)Mucopolysaccharidosis Type 3B (MPS IIIB, Sanfilippo Syndrome B)Riboflavin Transporter Deficiency NeuronopathyAcid Sphingomyelinase Deficiency (ASMD)ALG1-CDGAlternating Hemiplegia of ChildhoodCACH SyndromeFabry DiseaseGaucher DiseaseHemiplegiaInfantile Axonal NeuropathyLiver FailureMetabolic AcidosisMucopolysaccharidoses (MPS)Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome)Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome)Multiple Sulfatase DeficiencyOrnithine Transcarbamylase DeficiencyPompe DiseasePrimary Lateral SclerosisRhabdomyolysisUrea Cycle Disorders (UCD)

Publications

1 total

Sleep quality in children with hepatic glycogen storage diseases, a prospective observational pilot study.

JIMD reports • July 24, 2024

Clinical Trials

1 total

A Multicenter, Multinational, Observational Morquio A Registry Study (MARS)

Completed

Frequently Asked Questions

Who is Dr Heidi L. Peters and where does she work?
Dr Heidi L. Peters is a metabolic geneticist based in Melbourne, VIC, Australia.
What conditions does Dr Peters treat?
She focuses on metabolic and genetic conditions such as Leigh syndrome, various mucopolysaccharidoses (including MPS I, II, III), Pompe disease, Urea Cycle Disorders, Fabry and Gaucher diseases, among others listed in her services.
What services does she offer?
Her service list includes diagnosis and management of metabolic and genetic conditions, including listed conditions like MPS types, lysosomal storage disorders, riboflavin transporter deficiency, and related metabolic issues.
How can I book an appointment with Dr Peters?
To see Dr Peters in Melbourne, you would typically follow the clinic's referral and appointment process. If you have a referral, contact the practice to arrange a consultation.
What should I bring to my appointment?
Bring any relevant medical records, test results, and a list of current medications. If you have a genetic or metabolic test report, bring that as well.
Who is this care suitable for and are telehealth options available?
This care is for patients needing metabolic genetic assessment and guidance. Availability of follow-up methods, including in-person or telehealth, depends on the practice and should be confirmed when booking.