3 Hydroxy Acyl CoA Dehydrogenase Deficiency : MakingContact.org

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Condition (also listed as)	No. of members	Support Group
17 Ketosteroid Reductase Deficiency	0	-
3 Methylglutaconic Adicuria	0	-
5 Alpha Reductase Deficiency	0	-
Acquired Partial Lipodystrophy	10	-
Acrodermatitis Enteropathica	2	-
ACTH Deficiency (Isolated ACTH Deficiency)	1	-
Adenylosuccinate Lyase Deficiency	1	-
Alcaptonuria	2	-
Aldosteronism	0	-
Alpers Disease	16	-
Alpha Amino Adipic Aciduria	0	-
Alports Syndrome (Alport Syndrome)	2	-
Amyloidosis	1	-
Arginase Deficiency	0	-
Argininosuccinic Aciduria	6	-
Aromatic Amino Acid Decarboxylase Deficiency	0	-
Barth Syndrome (3 Methylglutaconic Aciduria Type II)	1
Bartter Syndrome (aldosteronism-normal blood pressure syndrome; Pseudo-Bartters; aldosteronism with hypokalemic alkalosis; juxtaglomerular hyperplasia syndrome)	4	-
Berardinelli Lipodystrophy	0	-
Biotin Deficiency	1	-
Biotinidase deficiency	1	-
Carbohydrate Deficient Glycoprotein Syndrome	2	-
Carnitine	0	-
Cerebral Lipidosis	0	-
Cerebrohepatorenal	0	-
Cholesteryl Ester Transfer Protein Deficiency	0	-
Chylomocron Retention Disease	0	-
Citrullinaemia	6	-
Congenital Adrenal Hyperplasia (Adrenal Hyperplasia; CAH; adrenogenital syndrome)	8
Congenital Chloride Diarrhoea	1	-
Congenital Disorders of Glycosylation (CDG,Carbohydrate Deficient Glycoprotein syndromes)	2	-
Congenital Folate Malabsorption (ICFM)	0	-
Congenital Hyperinsulinism (Persistent Hyperinsulinism Hypoglycaemia of Infancy; PHHI; Nesidioblastosis)	1	-
Creatine Transporter Deficiency Syndrome (SLC6A8 deficiency)	2	-
Cystinosis	1	-
Cystinuria	1	-
Cytochrome C Oxidase Deficiency (COX Deficiency)	1	-
DHPR Deficiency (Phenylketonuria II; Dihydropteridine Reductase Deficiency; Atypical PKU)	1	-
Dihydropyrimidine Dehydrogenase Deficiency	0	-
Ethylmalonic Adipic Aciduria	0	-
Fabry's Disease (Anderson-Fabry Disease, Haemorrhagic Nodular Glycolipid Lipidosis, Angiokeratoma corporis diffusum)	0
Fanconi Syndrome	2	-
Fibrodysplasia Ossificans Progressiva (Myositis Ossificans)	0	-
Fish Odour Syndrome	2	-
Gangliosidosis GM1 and GM2	3	-
Glucose 6 Phosphate Dehydrogenase Deficiency	1	-
Glucose Galactose Malabsorption Deficiency	0	-
Guanadinoacetate Methyltransferase (GAMT)	0	-
Hartnup Disease (Tryptophan Malabsorption)	0	-
Hereditary Fructose Intolerance	0	-
Homocystinuria	1	-
Hyperglycinaemia	0	-
Hyperinsulinism (Functional hypoglycaemic syndrome, hyperinsulinism syndrome, organic hyperinsulinism syndrome, Harriss Syndrome, hyperinsulinoma, reactive functional hypoglycaemia.)	2	-
Hyperoxaluria (Oxalosis)	1	-
Hyperphosphatasia	0	-
Hypertriglycridaemia	0	-
Hypocalcaemia	0	-
Hypoglycaemia	0	-
Hypoparathyroidism	9	-
Hypophosphatasia	0	-
Hypophosphatemic Rickets (VitaminResistant Rickets M)	4	-
Idiopathic Hypoparathyroidism	0	-
Isolated ACTH Deficiency Isovaleric Acidaemia	0	-
Kearne-Sayer Disease	5	-
Kearns-Sayer Disease	3	-
Leigh's Disease	25	-
Leukodystrophy	15	-
Lipodystrophy (Berardinelli Lipodystrophy,Mandibuoacral Dysplasia,MAD,Familial Partial Lipodystrophy)	0	-
Long Chain 3 Hydrocylacyl COA Dehydrogenase defice	0	-
Maple Syrup Urine Disease	0	-
Marcus Gunn Syndrome (Jaw Winking Syndrome)	39	-
MCAD	10	-
Medium Chain Acyl Co-Enzyme Dehydrogenase Deficien	1	-
Menkes Syndrome (Kinky Hair Syndrome)	1	-
Metabolic Aciduria	1	-
Methionine Adenosyl Transferase	0	-
Methionine Synthase Deficiency	0	-
Methylenetetrahydrofolate Reductase Deficiency	0	-
Methylglutaconic Aciduria	1	-
Methylmalonic Aciduria	3	-
Mevalonic Aciduria	0	-
Molybdenum Cofactor Deficiency	0	-
Monamine Oxidase Deficiency (MOAD)	0	-
Multiple Hormone Deficiencies	1	-
Neualonic Aciduria	0	-
Neuroaxonal Dystrophy (Seitelberger Disease,Infantile Neuroaxonal Dystrophy)	0	-
Neurovisceral Storage Disease	0	-
Non-Ketotic Hyperglycaemia	1	-
Olivopontocerebellar Degeneration/Atrophy	0	-
Ornithinaemia	0	-
Ornithine Transcarbamylase Deficiency (OTC)	13	-
Oxalosis	1	-
Peroxisomal Defect	0	-
Primary Hypoparathyroidism	1	-
Progeria	0	-
Progeroid Syndrome (Neonatal)	0	-
Pseudo-Hypoaldosteronism	3	-
Pseudocholinesterase Deficiency	4	-
Pyridoxine Dependent Epilepsy	6	-
Pyridoxine Dependent Vitamin B Deficiency	1	-
Pyrine Autism	5	-
Pyruvate Dehydrogenase Complex	3	-
Pyruvate Dehydrogenase Deficiency	1	-
Pyruvate Kinase Deficiency	0	-
Pyruvate Kinase Deficiency Hemolytic Anemia	0	-
Richner-Hanhart syndrome (Richner syndrome)	0
Sandhoff Disease	0	-
Serine Deficiency	0	-
Serum Cholinesterase Deficiency	3	-
Steroid Sulphatase Deficiency	0	-
Sucrose Intolerance	0	-
Sucrose Isomaltose Enzyme Deficiency	6	-
Thomsen Disease	1	-
Transcobalamin Type II Deficiency	0	-
Transient Neo-Natal Hyperammonaemia	0	-
Trihydoxi Acyl CoA Dehydrogenase Deficiency	0	-
Trimethylamineuria	2	-
Triose Phosphate Isomerase Deficiency	0	-
Triosephosphate Isomerase Deficiency	0	-
Tumoral Calcinosis	0	-
Tyrosinaemia Type 1	1	-
Urea Cycle Disorder	3	-
Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCAD, VLCADD)	0	-
Vitamin B12 Uptake Deficiency	1	-
Vitamin D Dependent Rickets Type I	0	-
Weidemann Rautenstrauch Syndrome	0	-

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