Katherine E. Lewis

Metabolic Geneticist

Female📍 Westmead

About of Katherine E. Lewis

Katherine E. Lewis is a Metabolic Geneticist based in Westmead, NSW, Australia. She looks after people who need help with health conditions linked to how the body breaks down and uses food and energy, and how genes can affect metabolism. This can be complex stuff, and in many cases it means working carefully to understand what is going on, piece by piece.


In her practice in Westmead, Katherine supports patients and families dealing with inherited metabolic conditions. These can include problems such as phenylketonuria (PKU), carnitine-acylcarnitine translocase deficiency, and HMG-CoA lyase deficiency. She also helps with ongoing metabolic issues like metabolic acidosis, which can show up as the body struggles to keep things balanced.


She also has clinical experience in neurogenetic and muscle-related conditions, including forms like amyotrophic lateral sclerosis (ALS or Lou Gehrig’s disease) and primary lateral sclerosis. At times, families are also looking for guidance around gangliosidoses, including GM1 gangliosidosis, and other rare genetic diagnoses such as Mongolian blue spots. Each case is different, and care often comes down to early understanding, clear monitoring, and support for day-to-day decisions.


Experience and education details aren’t listed in the available information, but Katherine works in the area of metabolic genetics and focuses on practical, patient-centred care. Information about publications is not provided here, and clinical trial details also aren’t listed. What matters in the clinic is that families get straightforward explanations, and management plans that fit around real life.

Services & Conditions Treated

3-Hydroxy-3-Methylglutaryl-CoA Lyase DeficiencyAmyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease)Mongolian Blue SpotsPrimary Lateral SclerosisCarnitine-Acylcarnitine Translocase DeficiencyGangliosidosisGM1 GangliosidosisMetabolic AcidosisPhenylketonuria (PKU)

Publications

1 total

'Fighting every day': exploring caregiver quality of life and perspectives on healthcare services for children with dementia - a cross-sectional, mixed-methods study.

Archives of disease in childhood • September 17, 2024

Clinical Trials

1 total

A Phase 3 Open-Label Study of PTC923 (Sepiapterin) in Phenylketonuria

RecruitingPhase 3PTC923

Frequently Asked Questions

What services does Dr Katherine E. Lewis provide?
Dr Katherine E. Lewis is a metabolic geneticist who offers care related to metabolic and genetic conditions, including conditions such as 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Carnitine-Acylcarnitine Translocase Deficiency, GM1 Gangliosidosis, and metabolic issues like metabolic acidosis.
Which conditions does she specialise in treating?
Her listed areas include 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Amyotrophic Lateral Sclerosis (ALS), Mongolian Blue Spots, Primary Lateral Sclerosis, Carnitine-Acylcarnitine Translocase Deficiency, Gangliosidosis and GM1 Gangliosidosis, metabolic acidosis, and Phenylketonuria (PKU).
Where is Dr Lewis based for appointments?
She practises in Westmead, New South Wales, Australia.
How can I arrange an appointment with her?
To book an appointment, contact the Westmead area clinic or the practice directly. If you’re unsure how to proceed, ask your GP for a referral to a metabolic geneticist in Westmead.
Who might benefit from seeing a metabolic geneticist like Dr Lewis?
Patients dealing with metabolic or genetic conditions listed in her services, such as PKU, various lysosomal storage disorders, fatty acid oxidation defects, and related neuromuscular or metabolic concerns, may benefit from her care.
What should I expect at my first visit?
The first visit typically involves discussing medical history, current concerns, and any relevant tests or results. The doctor will outline next steps and potential tests or consultations as needed.