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)
- 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:
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genetic counselor or geneticist in your area:
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September 30, 2004
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