Pompe is a glycogen storage disorder caused by the buildup of glycogen in the body’s cells. This happens because people with this disorder lack an enzyme known as alpha glucosidase. Alpha glucosidase is primarily responsible for breaking down glycogen in the body.


Phenylketonuria (PKU) is a rare, genetic disorder caused by a defect in the gene that helps produce the enzyme needed to break down an amino acid called phenylalanine. This leads to a dangerous build-up of phenylalanine in the body whenever the child/adult eats foods with proteins, aspartame or artificial sweeteners.


Mucopolysaccharidosis (MPS) is caused by a defect in one of the lysosomal enzymes leading to improper breakdown of mucopolysaccharides (long chains of sugar molecules found in the body).


Mucolipidoses (ML) are a group of genetic, metabolic diseases which lead to the accumulation of abnormal amounts of lipids (fatty substances) and carbohydrates in cells.


Leukodystrophies are a group of rare, genetic disorders affecting the white matter in the brain. Leuko means “white” and dystrophy means “abnormal growth.” Leukodystrophy damages the myelin sheath in the brain which leads to improper communication between the brain and other parts of the body.

Inborn Errors of Metabolism

Metabolism is a sequence of chemical reactions in the cells of the body. These metabolic reactions play a major role in breaking down nutrients and generating and storing energy. Any block in a metabolic pathway can lead to serious consequences.


Gaucher is one of the most common, frequently occurring Lysosomal Storage Disorder (LSD). LSDs are genetic disorders due to the lack of specific enzymes which break down lipids (fats) or carbohydrates (sugars) in the body.

Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a genetic disorder affecting the adrenal glands which lie on the top of the kidneys. The adrenal glands do not function normally due to a mutation in the gene coding for the enzyme, adrenal steroid 21-hydroxylase.