Inherited Metabolic Diseases Medications

BETAINE treats high levels of the amino acid homocysteine in your body (homocystinuria). Changes to diet are often combined with this medication.

SODIUM PHENYLBUTYRATE treats urea cycle disorders (UCDs). It works by helping your body decrease the amount of ammonia in your blood. This lowers the risk of serious health problems. It is not a cure.

LARONIDASE treats mucopolysaccharidosis I (MPS I). It works by replacing an enzyme normally made by the body, which reduces the buildup of complex sugars in the body. This decreases symptoms.

AGALSIDASE BETA is used to replace an enzyme that is missing in patients with Fabry disease. It is not a cure.

FOSDENOPTERIN treats molybdenum cofactor deficiency (MoCD). It works by replacing a substance normally made by the body, which reduces the buildup of toxins. This reduces injury to the brain.

IMIGLUCERASE treats Gaucher disease. It works by decreasing the amount of fatty substances (lipids) your body makes, which prevents the buildup of lipids in the spleen, liver, and other tissues. This decreases symptoms.

PEGUNIGALSIDASE ALFA treats Fabry disease. It works by replacing an enzyme normally made by the body, which reduces the buildup fatty substances (lipids) in the eyes, kidneys, heart, and other tissues. This decreases symptoms and the risk of serious health problems.

ODEVIXIBAT treats itching caused by liver disease. It works by decreasing the amount of bile acids in the body, which reduces itching.

Aqneursa is part of the Amino Acid Derivatives class and treats Inherited Metabolic Diseases. Amino Acid Derivatives are used to treat a wide range of diseases. They work by acting as signaling molecules that influence gene expression, thus regulating the rate at which specific proteins are synthesized within a cell. Aqneursa is only available as a brand name drug.

Ctexli is part of the Bile Acids class and treats Inherited Metabolic Diseases. Bile acids are used to dissolve gallstones and to treat cirrhosis by increasing the amount of ursodiol in the body. Ctexli is only available as a brand name drug.

NEDOSIRAN treats high levels of the waste product oxalate in the urine, which can cause kidney stones and other problems. It works by decreasing the amount of oxalate your body makes.

Miplyffa is part of the Heat Shock Protein Amplifiers class and treats Inherited Metabolic Diseases. Heat Shock Protein Amplifiers are used to treat inherited metabolic diseases. They work by manipulating HSPs, which are proteins that help other proteins fold correctly. This helps cells survive stressful conditions. Miplyffa is only available as a brand name drug.

IDURSULFASE is used to replace an enzyme that is missing in patients with Hunter syndrome. It is not a cure.\n \nThis medicine may be used for other purposes; ask your health care provider or pharmacist if you have questions.

MARALIXIBAT treats itching caused by liver disease. It works by decreasing the amount of bile acids in the body, which reduces itching.

LUMASIRAN lowers urinary oxalate levels in children and adults with primary hyperoxaluria type 1 (PH1).

ELIVALDOGENE AUTOTEMCEL treats cerebral adrenoleukodystrophy (CALD). It works by helping your body make more of a protein needed to support the protective membrane that covers nerve cells in your brain and spinal cord. This delays worsening symptoms.

Tryngolza is part of the APOC-III Directed Antisense Oligonucleotides class and treats Inherited Metabolic Diseases. APOC-III directed antisense oligonucleotides are used to reduce triglyceride levels in patients with familial chylomicronemia syndrome (FCS). They work by targeting RNA to reduce lipid levels. Tryngolza is only available as a brand name drug.

ELIGLUSTAT treats Gaucher disease. It works by decreasing the amount of fatty substances (lipids) your body makes, which prevents the buildup of lipids in the spleen, liver, and other tissues. This decreases symptoms.

Taliglucerase alfa is a man-made form of an enzyme that is missing in patients with Gaucher's disease. It is used to treat the symptoms of Gaucher's disease. It is not a cure.\n \nThis medicine may be used for other purposes; ask your health care provider or pharmacist if you have questions.

SEBELIPASE ALFA treats lysosomal acid lipase deficiency (LAL-D). It works by replacing an enzyme normally made by the body, which reduces the buildup of fatty substances (lipids) in the body. This decreases symptoms.

Kebilidi is part of the Gene Therapy Drugs class and treats Inherited Metabolic Diseases. Gene therapy drugs are used to treat leukemia, blindness, and genetic diseases. They work by adding new genes to the body to compensate for defective ones. Kebilidi is only available as a brand name drug.

ALGLUCOSIDASE ALFA treats Pompe disease. It works by replacing an enzyme normally made by the body, which reduces the buildup of sugar (glycogen) in your muscles. This decreases symptoms.

GALSULFASE is an enzyme replacement. It is used to treat the symptoms of mucopolysaccharidosis VI. This medicine is not a cure.\n \nThis medicine may be used for other purposes; ask your health care provider or pharmacist if you have questions.

Nityr (nitisinone) slows the breakdown of tyrosine. It is used to treat a rare disease called hereditary tyrosinemia type 1. Nityr is less popular than comparable drugs. There are currently no generic alternatives for Nityr. It may be covered by Medicare and insurance plans, but some pharmacy coupons or cash prices may be lower.

NITISINONE treats tyrosinemia. It works by preventing the break-down of the amino acid tyrosine, which stops the buildup of toxins in your body. This decreases symptoms. Changes to diet are often combined with this medication.