jueves, 29 de mayo de 2014

Metabolic genetic conditions

Metabolic genetic conditions

Image that's a link to Genetics Education Center Support Page

Metabolic Conditions

Includes: aspartylglusomarinuria, biotinidase deficiency, carbohydrate deficient glycoprotein syndrome (CDGS), Crigler-Najjar syndrome, cystinosis, diabetes insipidus, Fabryfatty acid metabolism disordersgalactosemia, 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, mannosidosismaple 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
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 Kingdomconditions

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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