For more information about disease-specific groups, please click the disease states below.

X-linked Hypophosphatemia
(XLH)

X-linked hypophosphatemia (XLH) is a rare, progressive, and lifelong disorder caused by low levels of phosphate in the bloodstream.

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Mucopolysaccharidosis type VII
(MPS VII)

Mucopolysaccharidosis type VII (MPS VII), also known as Sly Syndrome, is a rare genetic metabolic disorder.

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Long-Chain Fatty Acid Oxidation Disorder
(FAOD)

Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare conditions that prevent the body from breaking down certain fats into energy.

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Tumor-Induced Osteomalacia
(TIO)

Tumor-induced osteomalacia (TIO) is a rare disease caused by tumors that appear and grow in the extremities (hands and feet).

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Ornithine Transcarbamylase Deficiency
(OTC)

Ornithine transcarbamylase (OTC) deficiency is an X-linked genetic disorder that has a wide range of symptoms and severity. Babies with neonatal onset become ill within the first 30 days of life and those with late onset become ill after 30 days of age through adulthood.

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Glycogen Storage Disease Type 1a
(GSD1a)

Glycogen storage disease type 1a (GSD1a) is a genetic disorder that results in the buildup of glycogen in the body’s cells and an inability to regulate and maintain normal blood sugar levels. It is the most common type of genetically inherited glycogen storage disease.

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GNE Myopathy
(GNEM)

GNE myopathy is a rare muscle disease that affects both the upper and lower limbs.

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Glut1 Deficiency Syndrome
(Glut1 DS)

Glut 1 DS is rare, genetic disorder that prevents enough glucose (sugar) from getting to the brain, leaving the brain starving for energy. Other names for Glut1 DS are glucose transporter type 1 deficiency syndrome and DeVivo Disease.

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