Metabolic genetic conditions

Metabolic Conditions

Includes: aspartylglusomarinuria, biotinidase deficiency, carbohydrate deficient glycoprotein syndrome (CDGS), Crigler-Najjar syndrome, cystinosis, diabetes insipidus, Fabry, fatty acid metabolism disorders, galactosemia, Gaucher, glucose-6-phosphate dehydrogenase (G6PD), glutaric aciduria, Hurler, Hurler-Scheie, Hunter, hypophosphatemia, I-cell, Krabbe, lactic acidosis, long chain 3 hydroxyacyl CoA dehydrogenase deficiency (LCHAD), lysosomal storage diseases, mannosidosis, maple syrup urine, Maroteaux-Lamy, metachromatic leukodystrophy, mitochondrial, Morquio, mucopolysaccharidosis, neuro-metabolic, Niemann-Pick, organic acidemias, purine, phenylketonuria (PKU), Pompe, porphyria, pseudo-Hurler, pyruvate dehydrogenase deficiency, Sandhoff, Sanfilippo, Scheie, Sly, Tay-Sachs, trimethylaminuria (Fish-Malodor syndrome), urea cycle conditions, vitamin D deficiency rickets

Association for Neuro-Metabolic Disorders: 5223 Brookfield Lane; Sylvania, OH 43560-1809; Phone: (419) 885-1497; E-mail: volk4olks@aol.com

Research Trust for Metabolic Diseases in Children (RTMDC): Golden Gates Lodge; Weston Road; Crewe CW2 SXN United Kingdom; 0(127) 025-0221

Metabolic Information Network: P.O. Box 670847; Dallas TX 75367-0847; (214) 696-2188; e-mail: mizesg@ix.netcom.com (or lx.netcom.com)

Belgian Support Group for Children with Metabolic Disorders (Belgische oudervereniging van kinderen met een stofwisselingsziekte), Dutch, also English, and French list of conditions (nom maladie métabolique)

Dutch Organisation for Children with Metabolic Disorders (Vereninging voor Kinderen mit Stofwisselingsziekten)

Children Living with Inherited Metabolic Diseases, (CLIMB), formerly Research Trust for Metabolic Disorders in Children), United Kingdom, conditions

Rare Genetic Diseases in Childhood: An Internet Resource Gateway

Neuro-metabolic disorder - information

Directory of Organizations for Endocrine and Metabolic Diseases

James William Lazzaro Foundation for Genetic Metabolism Disorders

Amyloidosis (familial amyloidotic polyneuropathy) - FAMYL, INC., 8825 Beacon Woods Place, Fort Wayne, IN 46804-2601 e-mail: 71766.225@compuserve.com
Biotinidase Deficiency: Newborn Screening, Oregan Public Health Services
Biotinidase Deficiency, disease profile, GeneClinics
Biotinidase, OMIM (Online Mendelian Inheritance in Man)
Crigler-Najjar syndrome, Medical Encyclopedia
Crigler-Najjar Association, King’s Way Foundation, Wichita, KS, includes Links to Resources
Crigler-Najjar Syndrome, Online Mendelian Inheritance in Man (OMIM) #218800
Crigler Najjar Syndrome, links to resources, web page from Italy (in English)
Diabetes information
Fabry Support & Information Group
Fatty acid Oxidation Disorder (FOD) Support (carnitine transport defect, carnitine acylcarnitine translocase deficiency, carnitine palmitoyltransferase I and II deficiency (CPT I & II), very long chain acyl-coA dehyrogenase deficiency (VLCAD), long chain acyl-coA dehyrogenase deficiency (LCAD), L-3-hydroxy-acyl-coA dehyrogenase deficiency (LCHAD), trifunctional protein deficiency, medium chain acyl-coA dehyrogenase deficiency (MCAD), dienoyl-coA reductase deficiency, short chain acyl-coA dehyrogenase deficiency (SCAD), electron transfer flavoprotein (ETF) dehydrogenase deficiency: (glutaricaciduria) GAII and MADD), 3-hydroxy-3 methyl glutaric (HMG) deficiency)
Galactosemia - resources
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency, individual's page, Italy
Glutaric aciduria
International Organization of Glutaric Acidemia
Glutaric Acidemia Type I, Metabolic Clinic (Genetic Service), Children’s Hospital, Boston, MA
Glutaric Acidemia, Type II, PacNorGG brochure
Glutaric Acidemia Type I (GA-I): An Organic Acid Disorder, SaveBabies
Glutaric Acidemia Type-II, Fatty Oxidation Disorder (FOD) Support
F-HYPDRR - Familial Hypophosphatemia or Vitamin D Resistant Rickets listserv mailing list for patients, families, clinicians and researchers
Krabbe Disease
Long chain 3 hydroxyacyl CoA dehydrogenase deficiency (LCHAD)
- LCHAD newsletter, United Kingdom
- Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD), SaveBabies
Mannosidosis Group, Dr. Dag Malm, Tromsø Mannosidosis Group, University of Tromsø, Norway
International Society for Mannosidosis & Related Diseases
Maple Syrup Urine Disease - resources
Methylene-tetrahydrofolate reductase (MTHFR) and birth defects, review, LDBotto and Q Yang, Centers for Disease Control and Prevention, Genetics, Atlanta, GA Aug 1999
Mitochondrial disorders - information
Mucopolysaccharidosis Syndromes: (Hurler, Scheie, Hurler-Scheie, Hunter, Sanfilippo, Morquio, Maroteaux-Lamy,other)
Niemann Pick - information
Organic acidemias
PKU information
Pompe disease - information
Porphyria
Purine Research Society
Trimethylaminuria information (1999)
Renewal TMAU (Trimethylaminuria) Support Group, Email: trimeth411@aol.com, PO Box 1606 or P.O. Box 3361, Grand Central Station, New York, NY 10163, Phone: 212.678.2506
Trimethylaminuria: the fish malodor syndrome, Mitchell SC, Smith RL (2001)
United Leukodystrophy Foundation
Urea cycle disorders

Also See:

National organizations information on genetic conditions or birth defects
State Newborn Screening Programs, including disorders screened, test methods, contacts and follow-up information and links

To locate a genetic counselor or geneticist in your area:

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