Shanti D. Balasubramaniam

Geneticist

Female📍 Subiaco

About of Shanti D. Balasubramaniam

Shanti D. Balasubramaniam is a geneticist based in Roberts Rd, Subiaco, WA 6008. In many cases, people see a geneticist when something doesn’t fit the usual pattern—growth isn’t tracking as expected, symptoms start in infancy or early childhood, or there are recurring health issues with no clear cause.


Shanti’s work focuses on genetic and inherited conditions. This can include problems linked to metabolism, like low blood sugar, lactic acidosis, and episodes such as diabetic ketoacidosis. It can also involve rare disorders affecting how the body processes certain amino acids and other building blocks, where early support and clear planning matter a lot.


There is also a big neurological side to the care. Some families come in because of seizures, muscle weakness or low muscle tone, spasticity, or developmental concerns such as delayed growth, microcephaly, and cortical dysplasia. Hearing loss is another area that can show up, along with optic nerve issues and other vision-related problems.


Over time, the same underlying genetic change can show up in different ways. That’s why a geneticist’s role is often about sorting out the pattern, explaining what it can mean for the person’s health, and helping guide next steps. This might include cardiomyopathy (heart muscle conditions), breathing and feeding issues, and concerns around muscle movement, where drug induced dyskinesia can be part of the story.


For some people, the genetics can also affect the skin, bones, and connective tissues. Conditions like cutis laxa, osteopetrosis or osteosclerosis, and other inherited differences may be part of what is being investigated. At times, disorders that impact the whole body system, including urea cycle disorders and mucopolysaccharidoses, need a careful and steady approach.


Shanti looks after individuals and families dealing with complex, long-term conditions. The goal is to bring clarity where possible, support practical day-to-day decisions, and work alongside other health professionals so care is coordinated and easier to manage.

Services & Conditions Treated

Holocarboxylase Synthetase DeficiencyMultiple Carboxylase DeficiencyAdenylosuccinate Lyase DeficiencyBarth SyndromeCutis LaxaFumarase DeficiencyGerodermia OsteodysplasticaGlycine EncephalopathyLeigh SyndromeMicrocephaly Deafness SyndromeMohr-Tranebjaerg SyndromeAchalasia Microcephaly SyndromeCardiomyopathyCortical DysplasiaCytochrome C Oxidase DeficiencyDelayed GrowthDiabetic KetoacidosisDrug Induced DyskinesiaHearing LossHypomelanotic DisorderHypotoniaInfantile NeutropeniaLactic AcidosisLow Blood SugarMaple Syrup Urine DiseaseMicrocephalyMitochondrial Complex V DeficiencyMucopolysaccharidoses (MPS)Optic Nerve AtrophyOsteopetrosisOsteosclerosis Autosomal DominantPMM2-Congenital Disorder of GlycosylationPyridoxine DeficiencySeizuresSpasticityUrea Cycle Disorders (UCD)Vici Syndrome

Publications

1 total

Probiotic enhanced immunity and mental wellbeing of generally healthy women: a randomised, placebo-controlled and double-blind study.

Beneficial microbes • October 17, 2024

Frequently Asked Questions

What services does Dr Shanti D. Balasubramaniam offer?
Dr Balasubramaniam specialises in genetic conditions. Her service list includes diagnosis and management of disorders such as multiple carboxylase deficiencies, Barth syndrome, mitochondrial and metabolic conditions, and related genetic disorders.
Which conditions can I discuss with this doctor?
You can talk about a wide range of genetic and metabolic conditions, including lactic acidosis, seizures related to genetic issues, Spasticity, developmental concerns, hearing loss, cardiomyopathy, and other listed syndromes and disorders. If you’re unsure, ask during your appointment.
Where is the clinic or practice located?
The clinic is in Subiaco, Western Australia, at Roberts Rd, Subiaco 6008. If you’re visiting from elsewhere, check travel times and parking with the clinic.
What should I bring to an appointment?
Bring your current medical notes, any test results, and a list of medications. If you have family history relevant to genetic or metabolic conditions, note that down as well.
How can I arrange an appointment?
To make an appointment, contact the clinic directly. The team will guide you on available times and any preparation needed for your visit.
What can I expect after a genetic assessment?
After assessment, the doctor will discuss findings, possible next steps, and any follow‑up tests or referrals needed. If you have concerns about the process, ask the doctor to explain in plain terms.

Contact Information

Roberts Rd, Subiaco, WA 6008, Australia

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