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Metabolic Conditions

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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

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Association for Neuro-Metabolic Disorders
5223 Brookfield Lane
Sylvania, OH 43560-1809
Phone: (419) 885-1497
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: (or

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

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Also See:

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To locate a genetic counselor or geneticist in your area:

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Link that takes you to the Genetic Support Groups  Link that takes you to the Genetic Professional Home Page  Link that takes you to the Genetics Education Center Home

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Genetics Education Center
University of Kansas Medical Center © 1995-2012
Debra Collins, M.S. CGC, Genetic Counselor,


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