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# Treatment of genetic disease: from diet to gene therapy

Genetic diseases are treated at every level, from the diet and the missing product to the protein, the RNA and now the gene itself.

Updated Nov 13, 2026

## Key facts

- Manipulating metabolism: restrict what cannot be handled (phenylalanine in PKU, galactose in galactosaemia), deplete what accumulates (phlebotomy in haemochromatosis, chelation in Wilson disease) or divert it (nitrogen scavengers in urea cycle disorders).
- Replace what is missing: the product (thyroid hormone, cortisol), a cofactor (biotin, vitamin B6, sapropterin in responsive PKU) or the enzyme (enzyme replacement in Gaucher, Fabry and Pompe disease).
- Help the faulty protein work: pharmacological chaperones (migalastat in Fabry disease) and CFTR modulators that improve the folding or opening of the channel in cystic fibrosis.
- Change RNA: splice-modifying drugs for spinal muscular atrophy and exon-skipping antisense drugs for some Duchenne variants.
- Change the cells or genes: haematopoietic stem cell or organ transplantation, gene addition with viral vectors (spinal muscular atrophy, RPE65 retinal dystrophy, haemophilia) and gene editing (sickle cell disease and β-thalassaemia).

## In detail

- Avoiding triggers is also treatment: oxidant drugs in G6PD deficiency, certain anaesthetics in malignant hyperthermia susceptibility, fasting in fatty-acid oxidation defects.
- Infused enzymes stay out of the central nervous system, so enzyme replacement leaves the brain disease of lysosomal disorders untreated.
- Substrate reduction lowers production of the stored molecule (eliglustat in Gaucher disease).
- Early diagnosis, often through newborn screening, is what makes many of these treatments effective.
- Most rare genetic diseases still have no disease-specific therapy; multidisciplinary care and family support remain central.

**Also called**
Enzyme replacement and substrate reduction, Gene-targeted therapies

## Clinical notes

- Children with PKU detected by newborn screening and treated early develop normally.
- Gene therapies are very expensive and need long follow-up for durability and late effects.

## Test yourself

Think of the answer, then tap the question to see it.

## Why does enzyme replacement not help the brain in many lysosomal storage diseases?

The infused enzyme cannot pass from the blood into the brain.

## What is an example of treatment by depletion?

Phlebotomy to remove iron in hereditary haemochromatosis (or copper chelation in Wilson disease).

## How do CFTR modulators work?

They help the faulty CFTR protein fold, reach the cell surface or open, restoring chloride transport.

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## Connections

## Related conditions 8

- [Phenylketonuria (PKU)](https://durgical.com/en/conditions/phenylketonuria/)
- [Classic galactosaemia](https://durgical.com/en/conditions/classic-galactosaemia/)
- [Hereditary hemochromatosis](https://durgical.com/en/conditions/hereditary-hemochromatosis/)
- [Wilson disease](https://durgical.com/en/conditions/wilson-disease/)
- [Gaucher disease](https://durgical.com/en/conditions/gaucher-disease/)
- [Cystic fibrosis](https://durgical.com/en/conditions/cystic-fibrosis/)
- [Spinal muscular atrophy](https://durgical.com/en/conditions/spinal-muscular-atrophy/)
- [Sickle cell disease](https://durgical.com/en/conditions/sickle-cell-disease/)

## Related 6

- [Gene therapy](https://durgical.com/en/biochemistry/topics/gene-therapy/)
- [CRISPR-Cas9 and genome editing](https://durgical.com/en/biochemistry/topics/crispr-cas9-and-genome-editing/)
- [MicroRNA, RNA interference and antisense drugs](https://durgical.com/en/biochemistry/topics/microrna-rna-interference-and-antisense-drugs/)
- [Lysosomal storage diseases](https://durgical.com/en/biochemistry/topics/lysosomal-storage-diseases/)
- [Newborn screening](https://durgical.com/en/biochemistry/topics/newborn-screening/)
- [Enzyme units, specificity and uses in medicine and industry](https://durgical.com/en/biochemistry/topics/enzyme-units-specificity-and-uses-in-medicine-and-industry/)

Educational information, not medical advice. For any symptom, see a health professional.

Sources: [What is gene therapy?: MedlinePlus Genetics](https://medlineplus.gov/genetics/understanding/therapy/genetherapy/) (MedlinePlus, US National Library of Medicine, 2026); [How does gene therapy work?: MedlinePlus Genetics](https://medlineplus.gov/genetics/understanding/therapy/procedures/) (MedlinePlus, US National Library of Medicine, 2026); [What are genome editing and CRISPR-Cas9?: MedlinePlus Genetics](https://medlineplus.gov/genetics/understanding/genomicresearch/genomeediting/) (MedlinePlus, US National Library of Medicine, 2026); [Approved Cellular and Gene Therapy Products](https://www.fda.gov/vaccines-blood-biologics/cellular-gene-therapy-products/approved-cellular-and-gene-therapy-products) (US Food and Drug Administration (FDA), 2026).

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License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/biochemistry/topics/treatment-of-genetic-disease-from-diet-to-gene-therapy/