Hereditary Metabolic Disorders
Most of the foods and drinks people ingest are complex materials that the body must break down into simpler substances. This process may involve several steps. The simpler substances are then used as building blocks, which are assembled into the ... [... more]
Merck |
MPS I H, síndrome de Hurler
Información de las Mucopolisacaridosis/Spanish-language information on Las Mucopolisacaridosis compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Las mucopolisacaridosis (MPS por su sigla en inglés) son un [... more]
NINDS Espanol |
Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the nervous system and muscles. This disorder usually appears in the first few months of life, when development of new motor and cognitive skills ... [... more]
Genetics Home Reference |
Lipid Storage Diseases Fact Sheet
Lipid Storage Diseases Information Page Publications Organizations News Research literature Clinical Trials Lipid storage diseases, or the lipidoses, are a group of inherited metabolic disorders in which harmful amounts of fatty materials called ... [... more]
NINDS |
Amyloidosis
Amyloidosis - Comprehensive overview covers symptoms, causes and treatment of abnormal protein buildup in tissues. Amyloidosis is a rare and potentially fatal disease that occurs when substances called amyloid proteins build up in your organs. ... [... more]
Mayo Clinic |
What is 2-methylbutyryl-coenzyme A dehydrogenase deficiency?
Health problems related to 2-methylbutyryl-coenzyme A dehydrogenase deficiency vary widely from severe and life-threatening to mild or absent. Signs and symptoms of this disorder can begin a few days after birth or later in childhood. The initial ... [... more]
Genetics Home Reference |
Glucose-galactose malabsorption
Glucose-galactose malabsorption is a condition in which the cells lining the intestine cannot take in the sugars glucose and galactose, which prevents proper digestion of these molecules and larger molecules made from them. Glucose and galactose ... [... more]
Genetics Home Reference |
National MPS Society / Glossary
The collection of lymphatic tissue at the rear of the nose. Enlargement of the adenoids may cause obstruction of breathing through the nose. Procedure involving withdrawal of amniotic fluid, the fluid that surrounds the growing fetus in the ... [... more]
mpssociety.org |
It's hurricane and tropical storm season. Learn more:
MedlinePlus Health Information from the National Library of Medicine Start here with 750 topics on conditions, diseases and wellness About your prescription and over-the-counter medicines, herbs and supplements A service for finding local ... [... more]
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GARD & Rare Diseases Information Center
Welcome to the Genetic and Rare Diseases Information Center (GARD), a collaborative effort of two agencies of the National Institutes of Health The Office of Rare Diseases and the National Human Genome Research Institute to help people find ... [... more]
rarediseases.info.nih.gov |
It's hurricane and tropical storm season. Learn more:
MedlinePlus Health Information from the National Library of Medicine Start here with 750 topics on conditions, diseases and wellness About your prescription and over-the-counter medicines, herbs and supplements A service for finding local ... [... more]
medlineplus.gov |
National Institutes of Health (NIH) - Home Page
Official website of the National Institutes of Health (NIH). NIH is one of the world's foremost medical research centers. An agency of the U.S. Department of Health and Human Services, the NIH is the Federal focal point for health research. The ... [... more]
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