Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the b...

Tangier Disease is an inherited blood disorder involving decreased concentrations of fat compounds in the blood called high-density lipoproteins (sometimes called "good cholesterol"). Large amounts of these compounds may accumulate in certain orga...

Argininosuccinic aciduria is a rare inherited disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL). Argininosuccinate lyase is one of six enzymes that play a role in the breakdown and removal of nitrogen from th...

Argininosuccinic aciduria is a rare inherited disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL). Argininosuccinate lyase is one of six enzymes that play a role in the breakdown and removal of nitrogen from th...

Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel (vascular) disorder that affects the skin and internal organs of the body. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth ...

Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat ...

Ulcerative colitis (UL-sur-uh-tiv koe-LIE-tis) is an inflammatory bowel disease ...

Ulcerative colitis (UL-sur-uh-tiv koe-LIE-tis) is an inflammatory bowel disease (IBD) that causes inflammation and ulcers (sores) in your digestive tract. Ulcerative colitis affects the innermost lining of your large intestine (colon) and rectum. ...

Microvillus inclusion disease is an extremely rare inherited intestinal disorder (enteropathy) that is typically apparent within hours or days after birth. The disorder is characterized by chronic, severe, watery diarrhea and insufficient absorpti...

Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat ...

Dubin Johnson Syndrome is a rare genetic liver disorder that tends to affect people of Middle Eastern Jewish heritage disproportionately to other groups. It appears to be associated with clotting factor VII in this population. Symptoms may include...

Tangier Disease is an inherited blood disorder involving decreased concentrations of fat compounds in the blood called high-density lipoproteins (sometimes called "good cholesterol"). Large amounts of these compounds may accumulate in certain orga...

Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. The deficiency of this enzyme prevents affected individuals from properly digesting certain fats and ...

Fructosuria is a rare but benign inherited metabolic disorder. It is characterized by the excretion of fruit sugar (fructose) in the urine. Normally, no fructose is excreted in the urine. This condition is caused by a deficiency of the enzyme fruc...

Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body's ability to convert galactose (a sugar contained in milk, including human mother's milk) to glucose (a different type of sugar). Galactose is converted t...

Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body's ability to convert galactose (a sugar contained in milk, including human mother's milk) to glucose (a different type of sugar). Galactose is converted t...

Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the b...

Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy for the body. Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Glycogen storage...

Hers disease is a genetic metabolic disorder caused by a deficiency of the enzyme, liver phosphorylase. This enzyme is necessary to break down (metabolize) glycogen, a carbohydrate that is stored in the liver and muscle and used for energy. Defici...

Forbes disease (GSD-III) is one of several glycogen storage disorders (GSD) that are inherited as autosomal recessive traits. Symptoms are caused by a lack of the enzyme amylo-1,6 glucosidase (debrancher enzyme). This enzyme deficiency causes exce...

Andersen disease belongs to a group of rare genetic disorders of glycogen metabolism, known as glycogen storage diseases. Glycogen is a complex carbohydrate that is converted into the simple sugar glucose for the body's use as energy. Glycogen sto...

Hereditary spherocytic hemolytic anemia is a rare blood disorder characterized by defects within red blood cells (intracorpuscular) that result in a shortened survival time for these cells. Red blood cells (erythrocytes) normally circulate for a f...

Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats and resu...

Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat ...

Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat ...

Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the b...

Weil syndrome, a rare infectious disorder, is a severe form of the bacterial infection caused by Leptospira bacteria known as leptospirosis. Weil syndrome is characterized by dysfunction of the kidneys and liver, abnormal enlargement of the liver ...

Madelung's disease is a disorder of fat metabolism (lipid storage) that results in an unusual accumulation of fat deposits around the neck and shoulder areas. Adult alcoholic males are most often affected, although women and those who do not drink...

Niemann-Pick disease (NPD) is a group of rare inherited disorders of fat metabolism. At least five types of Niemann-Pick disease have been identified (NPD types A, B, C, D, and E). Symptoms of types A and B occur as a result of a deficiency of the...

Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. The deficiency of this enzyme prevents affected individuals from properly digesting certain fats and ...

The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine). This results in an abnormally high level of acid in the blood (academia) and body...

Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) is a mucopolysaccharide storage disease that exists in two forms (Morquio syndromes A and B) and occurs because of a deficiency of the enzymes N-acetyl-galactosamine-6-sulfatase and beta-gal...

Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) is a mucopolysaccharide storage disease that exists in two forms (Morquio syndromes A and B) and occurs because of a deficiency of the enzymes N-acetyl-galactosamine-6-sulfatase and beta-gal...

The Mucopolysaccharidoses (MPS Disorders) are a group of rare genetic disorders caused by the deficiency of one of the lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. H...

General DiscussionNeonatal lupus is a rare autoimmune disorder that is present at birth (congenital). Affected infants often develop a characteristic red rash or skin eruption. In addition, infants with neonatal lupus may develop liver di...

Glycogen storage disease VIII is one of a group of hereditary disorders caused by a lack of one or more enzymes involved in glycogen synthesis or breakdown and characterized by deposition of abnormal amounts or types of glycogen in tissues. Excess...

5-Oxoprolinuria is a biochemical finding that can arise from two underlying metabolic disorders. It is characterized by excretion of massive amounts of the chemical 5-oxoproline....

Budd-Chiari syndrome is a rare disorder characterized by narrowing and obstruction (occlusion) of the veins of the liver (hepatic veins). Symptoms associated with Budd Chiari syndrome include pain in the upper right part of the abdomen, an abnorma...

Sandhoff disease is a lipid storage disorder characterized by a progressive deterioration of the central nervous system. The clinical symptoms of Sandhoff disease are identical to Tay-Sachs disease. Sandhoff disease is an autosomal recessive genet...

POEMS syndrome is an extremely rare multisystem disorder. POEMS is an acronym that stands for (P)olyneuropathy, disease affecting many nerves; (O)rganomegaly, abnormal enlargement of an organ; (E)ndocrinopathy, disease affecting certain hormone-pr...

Congenital syphilis is a chronic infectious disease caused by a spirochete (treponema pallidum) acquired by the fetus in the uterus before birth. Symptoms of this disease may not become apparent until several weeks or months after birth and, in so...

Systemic mastocytosis (mas-to-sy-TOE-sis) is a disorder that results in an excessive number of mast cells in your body. Mast cells normally help protect you from disease and aid in wound healing by releasing substances such as histamine and leukot...

POEMS syndrome is an extremely rare multisystem disorder. POEMS is an acronym that stands for (P)olyneuropathy, disease affecting many nerves; (O)rganomegaly, abnormal enlargement of an organ; (E)ndocrinopathy, disease affecting certain hormone-pr...

TORCH Syndrome refers to infection of a developing fetus or newborn by any of a group of infectious agents. "TORCH" is an acronym meaning (T)oxoplasmosis, (O)ther Agents, (R)ubella (also known as German Measles), (C)ytomegalovirus, and (H)erpes Si...

Tyrosinemia type I is a rare autosomal recessive genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needed for the final break down of the amino acid tyrosine. Failure to properly break dow...

General DiscussionRomano-Ward syndrome is an inherited heart (cardiac) disorder characterized by abnormalities affecting the electrical system of the heart. The severity of Romano-Ward syndrome varies greatly from case to case. Some indiv...

Weil syndrome, a rare infectious disorder, is a severe form of the bacterial infection caused by Leptospira bacteria known as leptospirosis. Weil syndrome is characterized by dysfunction of the kidneys and liver, abnormal enlargement of the liver ...