How Do Metabolic Enzymes Work?

Metabolic enzymes are a class of drugs used to treat Fabry disease (an inherited disorder that results from the accumulation of a particular type of fat called “globotriaosylceramide” in the body), hypophosphatasia (a rare genetic disorder characterized by impaired mineralization “calcification” of bones and teeth), and Gaucher disease type 1  (an inherited disorder in which a certain fatty substance is not broken down normally and accumulates in the body, causing liver, spleen, bone, and blood problems).

Enzymes are one of the small but critical components of healthy bodily functions. They are responsible for interacting with other chemicals inside the body to bring about certain reactions, such as converting complex sugars into usable energy. Metabolic enzymes are a man-made form of the naturally occurring enzymes that work by replacing the enzymes produced naturally by the body which is missing in people with a certain genetic disorder. Replacement enzymes for enzyme replacement therapy are derived from human, animal, and plant cells that are then genetically modified and processed before being given to the patient.

Metabolic enzymes work in the following ways:

• They are a man-made form of naturally occurring enzymes produced in the body.
• They work by replacing the enzymes that are naturally produced by the body.
• In addition, they help increase the number of blood cells called “lymphocytes” that prevent and fight infection.

Metabolic enzymes are used in conditions such as:

• Fabry disease (an inherited disorder that results from the accumulation of a particular type of fat called “globotriaosylceramide” in the body)
• Mucopolysaccharidosis I and VI (a rare genetic disorder that affects both physical and mental development and can cause organ damage) 
• Pompe disease (also known as “GAA deficiency,” an inherited disorder caused by the buildup of a complex sugar called glycogen in the body)
• Hypophosphatasia (a rare genetic disorder characterized by impaired mineralization "calcification" of bones and teeth)
• Gaucher disease (an inherited disorder in which a certain fatty substance is not broken down normally and accumulates in the body, causing liver, spleen, bone, and blood problems)
• Adenosine deaminase severe combined immunodeficiency (an inherited disorder that damages the immune system and causes severe combined immunodeficiency)
• Hunter syndrome (a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme)
• Morquio A syndrome (a rare genetic condition that affects a child's bones, spine, organs, and physical abilities)
• Lysosomal acid lipase deficiency (an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body)
• Phenylketonuria (an inherited disorder that increases the levels of a substance called phenylalanine in the blood)
• Congenital sucrase-isomaltase deficiency (a rare inherited metabolic disorder characterized by the deficiency or absence of the enzymes sucrase and isomaltase that affect a person's ability to digest certain sugars)
• Hereditary orotic aciduria (a rare condition characterized by elevated levels of orotic acid in the urine)

Some of the common side effects include:

• Diarrhea
• Nausea
• Vomiting
• Headache
• Abdominal pain
• Muscle pain
• Fever
• Tiredness
• Pain at the injection site
• Cold symptoms (such as runny/stuffy nose, cough) 
• Arthralgia (joint pain)
• Other rare side effects include:
• Dizziness (feeling faint, weak, or unsteady)
• Difficulty breathing
• Numbness or tingling
• Fast heartbeat
• Rash/itching
• Insomnia (trouble falling and/or staying asleep)
• Restlessness
• Tremor (an involuntary, rhythmic muscle contraction leading to shaking movements in one or more parts of the body)
• Vertigo 
• Alopecia (an autoimmune disorder that usually results in unpredictable, patchy hair loss)
• Hypersensitivity reactions

Information contained herein is not intended to cover all possible side effects, precautions, warnings, drug interactions, allergic reactions, or adverse effects. Check with your doctor or pharmacist to make sure these drugs do not cause any harm when you take them along with other medicines. Never stop taking your medication and never change your dose or frequency without consulting your doctor.

Generic and brand names of metabolic enzymes include:

• Agalsidase alfa
• Agalsidase beta
• Aldurazyme
• Alglucosidase alfa
• Asfotase alfa
• Avalglucosidase alfa
• Beta glucuronidase, recombinant
• Cerezyme
• Elapegademase
• Elapegademase-lvlr
• Elaprase
• Elelyso
• Elosulfase alfa
• Fabrazyme
• Fosdenpoterin
• Galsulfase
• Idursulfase
• Imiglucerase
• Kanuma
• Laronidase
• Lumizyme
• Myozyme
• Naglazyme
• Nulibry
• Palynziq
• Pegademase
• Pegunigalsidase alfa (pending FDA approval)
• Pegvaliase
• Pegvaliase-pqpz
• Pegylated phenylalanine ammonia lyase (PAL)
• Replagal
• Revcovi
• rhGUS
• Sacrosidase
• Sebelipase alfa
• Strensiq
• Sucraid
• Taliglucerase alfa
• Uridine triacetate
• Velaglucerase alfa
• Vimizim
• Vistogard
• VPRI V
• Xuriden