Rare Disease Spotlight: Propionic Acidemia

When a newborn struggles to feed, becomes unusually drowsy, or develops unexplained vomiting in their first days of life, parents may face an unexpected diagnosis: propionic acidemia.

Rare Disease Spotlight: Tyrosinemia type 1

Tyrosinemia Type 1 (TYR), also known as fumarylacetoacetase (FAH) deficiency, is a rare inherited disorder that affects the body's ability to break down the amino acid tyrosine.

What are medical foods, and who needs them?

For individuals living with certain medical conditions, achieving proper nutrition through regular food alone can be challenging or even impossible. When the body's ability to process, absorb, or utilize nutrients is compromised by disease, medical foods step in to provide precisely formulated nutritional support. standard foods and supplements cannot meet.

Rare disease spotlight: Maple Syrup Urine Disease (MSUD)

Maple Syrup Urine Disease (MSUD) is a rare inherited metabolic disorder affecting the way in which the body processes certain amino acids that are found in proteins

Rare Disease Spotlight: Homocystinuria (HCU)

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)

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

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

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.

Committed to Helping Improve the Lives of Individuals Living with Rare Metabolic Disorders

At Pentec Health, we understand the complex challenges that accompany living with Phenylketonuria (PKU). Pentec is committed to helping improve the lives of individuals living with rare metabolic disorders and providing expanded access to both formulas and low-protein Medical Foods for PKU families.