Diseases

Hyperammonemia due to NAGS, IVA, MMA or PA

NAGS deficiency
N-aceteylglutamate synthase (NAGS) deficiency is a very rare disorder and is known as the rarest of the urea cycle disorders (UCD). Urea cycle disorders are inherited conditions in which the body lacks, or is deficient in, one of the six enzymes

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Nephropathic cystinosis

Nephropathic cystinosis is a genetic disorder in which the amino acid cystine accumulates in the lysosomes. Lysosomes are vesicles containing digestive enzymes to metabolise and create proteins. This accumulation results from the defective transport of cystine within the cell structure.

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Homocystinuria

Homocystinuria is an inherited metabolic disorder involving the way the body processes methionine, an amino acid. Amino acids are the building blocks of proteins. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause.

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Acute Porphyria

The porphyrias are a group of inherited disorders that affect the body’s biosynthesis of haem. Haem is vital for red blood cells to carry oxygen. Deficiencies occur in particular enzymes leading to the build-up of substances called porphyrins and porphyrin precursors.

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Wilson's Disease

Wilson’s disease is a genetic disorder characterised by an accumulation of copper firstly within the liver and subsequently in the brain and other tissues. This results in neurological symptoms and liver disease.

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