• Overviews
  
• Anatomy/Physiology
  
• Diagnosis/Symptoms
  
• Treatment
  
• Clinical Trials
  
• Specific Conditions
  
• Prevention/Screening
  
• Nutrition
  

• Disease Management
  
• Research
  
• Genetics
  
• Dictionaries/Glossaries
  
• Directories
  
• Organizations
• Children
  
• Seniors

• Hereditary Disorders of Metabolism: Introduction (Merck & Co., Inc.)

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Anatomy/Physiology

• Genes and Disease: Nutritional and Metabolic Diseases (National Center for Biotechnology Information)

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Diagnosis/Symptoms

• Diagnostic Testing: Hutchinson-Gilford Progeria Syndrome (HGPS) (Progeria Research Foundation, Inc.)

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Treatment

• FDA Approves First Treatment for Genetic Metabolic Disorder Including Hurler Disorder (Food and Drug Administration)

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Clinical Trials

• ClinicalTrials.gov: Metabolic Diseases (National Institutes of Health)
• ClinicalTrials.gov: Mucolipidoses (National Institutes of Health)
• ClinicalTrials.gov: Mucopolysaccharidoses (National Institutes of Health)

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Specific Conditions

• About Barth Syndrome (Barth Syndrome Foundation)
• About Primary Hyperoxaluria (Oxalosis and Hyperoxaluria Foundation)
• Amino Acid Metabolism Disorders (Merck & Co., Inc.)
• Amyloidosis (Mayo Foundation for Medical Education and Research)
• Barth Syndrome (National Institute of Neurological Disorders and Stroke)
• Carbohydrate Metabolism Disorders (Merck & Co., Inc.)
• Carnitine Palitoyl Transferase Deficiency Type II (CPT-II) (Save Babies Through Screening)
• Celiac Disease
• G6PD Deficiency (Glucose-6-Phosphate Dehydrogenase) (Nemours Foundation)
• Gaucher's Disease
• Genes and Disease: Glucose Galactose Malabsorption (GGM) (National Center for Biotechnology Information)
• Genetic Brain Disorders
• Guide to Understanding Hunter Syndrome: Mucopolysaccharidosis (MPS) II (National MPS Society) - Links to PDF File
• Guide to Understanding Hurler, Hurler-Scheie and Scheie Syndromes: Mucopolysaccharidosis (MPS) I (National MPS Society) - Links to PDF File
• Guide to Understanding I-Cell Disease and Pseudo-Hurler Polydystrophy: Mucolipidoses (ML) II and III (National MPS Society) - Links to PDF File
• Guide to Understanding Maroteaux-Lamy Syndrome: Mucopolysaccharidosis (MPS) VI (National MPS Society) - Links to PDF File
• Guide to Understanding Morquio Syndrome: Mucopolysaccharidosis (MPS) IV (National MPS Society) - Links to PDF File
• Guide to Understanding Sanfilippo Syndrome: Mucopolysaccharidosis (MPS) III (National MPS Society) - Links to PDF File
• Guide to Understanding Sly Syndrome: Mucopolysaccharidosis (MPS) VII (National MPS Society) - Links to PDF File
• Hemochromatosis
• Hypophosphatasia (Osteoporosis and Related Bone Diseases-National Resource Center)
• Learning about Progeria (National Human Genome Research Institute)
• Learning about Trimethylaminuria (National Human Genome Research Institute)
• Lesch-Nyhan Syndrome (National Institute of Neurological Disorders and Stroke) - Short Summary
• Metabolic Diseases of Muscle (Muscular Dystrophy Association)
  Also available in: Spanish
• Mitochondrial Myopathies (Muscular Dystrophy Association)
  Also available in: Spanish
• MPS and ML Disorders (Mucopolysaccharidoses and Mucolipidoses) (National MPS Society)
• Mucolipidoses (National Institute of Neurological Disorders and Stroke) - Short Summary
• Mucopolysaccharidoses (National Institute of Neurological Disorders and Stroke)
  Also available in: Spanish
• Multiple CoA Carboxylase Deficiency (Save Babies Through Screening)
• Organic Acidemia
• Phenylketonuria
• Pompe Disease (National Institute of Neurological Disorders and Stroke)
• Porphyria
• Pyruvate Metabolism Disorders (Merck & Co., Inc.)
• Type I Glycogen Storage Disease (American Liver Foundation)
• What Is a Urea Cycle Disorder? (National Urea Cycle Disorders Foundation)
• What Is Progeria? (Progeria Research Foundation, Inc.)
• Wilson's Disease

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Prevention/Screening

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Nutrition

• Nutritional Supplements in Hutchinson-Gilford Progeria Syndrome (Progeria Research Foundation, Inc.) - Links to PDF File
• Food, Nutrition and Metabolism

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Disease Management

• Important Information for You and Your Doctors about Low-Dose Aspirin Treatment and Progeria (Progeria Research Foundation, Inc.) - Links to PDF File
• Management of MPS (Mucopolysaccharidosis) and ML (Mucolipidoses) (National MPS Society) - Links to PDF File

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Research

• Birth Defects and Developmental Disabilities (National Institute of Child Health and Human Development)
• Gene Therapy Repairs Neurological Damage in Animal Model for Rare Metabolic Disease (National Institute of Neurological Disorders and Stroke)
• New Mouse Model Will Aid Research on Premature Aging Syndrome (National Cancer Institute)

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Genetics

• Genetics Home Reference: Metabolic Disorders (National Library of Medicine)
• Researchers Identify Gene for Premature Aging Disorder (Progeria) (National Human Genome Research Institute)
• Genetics/Birth Defects

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Dictionaries/Glossaries

• MPS (Mucopolysaccharidoses) Glossary (National MPS Society)

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Directories

• Genetic and Rare Conditions Site (University of Kansas, Genetics Education Center) - - organizations and support groups
• Genetic and Rare Diseases Information Center (Office of Rare Diseases)
• Laboratory Directory-GeneReviews (Children's Health Care System, Seattle)
• Organizations for Endocrine and Metabolic Diseases (National Institute of Diabetes and Digestive and Kidney Diseases)
• US Clinic Directory Search (Children's Health Care System, Seattle)

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Organizations

• Barth Syndrome Foundation
• National Institute of Diabetes and Digestive and Kidney Diseases
• National MPS Society (Mucopolysaccharidoses) (National MPS Society)
• Oxalosis and Hyperoxaluria Foundation
• Progeria Research Foundation, Inc.
• United Mitochondrial Disease Foundation

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Children

• Understanding MPS and ML: Is Your Child Having an Anesthetic? (National MPS Society) - Links to PDF File

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Seniors

• Low Blood Sodium in Older Adults (Hyponatremia) (Mayo Foundation for Medical Education and Research)

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Disclaimer:
This website has been compiled by the parents and caregivers of children with special needs. The Content available through the Site is for informational and educational purposes only and is not a substitute for the professional judgement of the health care professionals, financial and legal advisors or social workers. We do not give medical advice, nor do we provide medical or diagnostic services.