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Rare Disease Spotlight: Homocystinuria (HCU)

September 30, 2024 | Blogs

Cystathionine Beta-Synthase (CBS) deficiency, more commonly known as homocystinuria (HCU) is an inherited metabolic condition resulting in the body’s inability to process certain parts of proteins (amino acids) properly.

Rare Disease Spotlight: Homocystinuria (HCU)

September 30, 2024 | Blogs

Cystathionine Beta-Synthase (CBS) deficiency, more commonly known as homocystinuria (HCU) is an inherited metabolic condition resulting in the body’s inability to process certain parts of proteins (amino acids) properly.

Rare Disease Spotlight: Phenylketonuria

August 15, 2024 | Blogs

Phenylketonuria (PKU) is a rare inherited disorder that results in the inability to break down the amino acid phenylalanine, found in all foods containing protein. A build up of this in a person's blood or urine can cause both intellectual and developmental disabilities if left untreated.

Rare Disease Spotlight: Phenylketonuria

August 15, 2024 | Blogs

Phenylketonuria (PKU) is a rare inherited disorder that results in the inability to break down the amino acid phenylalanine, found in all foods containing protein. A build up of this in a person's blood or urine can cause both intellectual and developmental disabilities if left untreated.