3-Hydroxyacyl-CoA Dehydrogenase Deficiency

Also Known As:

3-Alpha-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency; 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency; HAD Deficiency; HADH Deficiency; HADHSC Deficiency; L-3-Alpha-Hydroxyacyl-CoA Dehydrogenase, Short Chain, Deficiency; M-SCHAD Deficiency; SCHAD Deficiency

Networked: 86 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: 86
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: 86
Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Oxidoreductases: 13671
    - Alcohol Oxidoreductases: 56
      - NAD (+) and NADP (+) Dependent Alcohol Oxidoreductases
        3-Hydroxyacyl CoA Dehydrogenases
        3-Hydroxyacyl-CoA Dehydrogenase Deficiency: 86

Related Diseases

1.	Hyperinsulinism (Hyperinsulinemia)
2.	Hypoglycemia (Reactive Hypoglycemia)
3.	3-Hydroxyacyl-CoA Dehydrogenase Deficiency
4.	Infant Death
5.	Hyperhomocysteinemia

Experts

1.	Bennett, Michael J: 6 articles (07/2012 - 09/2006)
2.	Ellard, Sian: 3 articles (06/2015 - 07/2009)
3.	Flanagan, Sarah E: 3 articles (06/2015 - 07/2009)
4.	Hussain, Khalid: 3 articles (06/2015 - 07/2009)
5.	Stanley, Charles A: 3 articles (09/2011 - 09/2010)
6.	Chadachan, Veerandra: 2 articles (06/2013 - 06/2013)
7.	Chin, Tay Jam: 2 articles (06/2013 - 06/2013)
8.	Handa, Pankaj: 2 articles (06/2013 - 06/2013)
9.	Joyce, Er Hui Ling: 2 articles (06/2013 - 06/2013)
10.	Pandit, Nihar: 2 articles (06/2013 - 06/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to 3-Hydroxyacyl-CoA Dehydrogenase Deficiency:

1.	Vitamin D FDA LinkGeneric 09/01/2020 - "Eighty-six percent of the cases had deficiency of vitamin D (<30 nmol/L), while 14% had insufficient vitamin D levels (31-50 nmol/L). " 11/01/2019 - "Among those having hypovitaminosis D, 107 (45%) had severe deficiency, 81 (34%) had deficiency and 50 (21%) had vitamin D insufficiency. " 09/01/2019 - "The mean level of vitamin D was 13.4±7.5 ng/mL. In terms of serum levels of vitamin D, 28 patients (41.8%) had severe deficiency, 31 (46.3%) had insufficiency, and five patients (7.5%) had deficiency. " 01/01/2017 - "It was observed that 26,5% of the individuals had deficiency and 49,5% had insufficiency of vitamin D. " 01/01/2017 - "In UC, 7.4% of cases had deficiency, 74.1% insufficiency and 18.5% had sufficient serum levels of vitamin D. "
2.	hydroxide ionIBA 04/03/2019 - "At baseline, 23 patients had a normal 25(OH)D level, 22 had insufficiency (< 25 nmol/L), and 17 had deficiency (25-50 nmol/L). " 01/01/2018 - "In children with AD 59.2% of children had insufficiency, 24.5% had deficiency and 16.3% had a sufficient serum 25(OH)D level. " 01/01/2016 - "Hundred and one (23.6 %) patients had deficiency (<50 nmol/L), 149 (34.7 %) had insufficiency (50-74.9 nmol/L), and 179 (41.7 %) had normal levels of 25(OH)D. " 01/19/2009 - "In winter 73% of the subjects had 25(OH)D insufficiency (25(OH)D concentration below 50 nmol/L) and 8% had deficiency (25(OH)D below 25 nmol/L). " 01/01/2011 - "Among 2990 studies evaluated, the mean concentration of 25 (OH) D was 22.5 ± 0.2 ng/mL, and that of 1, 25 (OH) vitamin D was 29.2 ± 0.4 ng/mL. Among them, only 695 subjects (23%) had normal values, while 889 (30%) had insufficiency, and 1405 (47%) had deficiency. "
3.	VitaminsIBA 11/01/2022 - "Across all study years, 21.8%-32.5% of participants had low serum vitamin B-12, 12.5%-17.0% had elevated urine MMA/creatinine, and 10.1%-12.7% had deficiency. " 01/01/2013 - "Preoperative serum concentrations of vitamin D were inadequate in 45% of women and 37% of men, while in the postoperative period 91% of women and 85% of men had deficiency of this vitamin. " 05/01/2007 - "In the north, 59% of the participants were deficient in either folate (<6.8 nmol/L) or vitamin B-12, and 17% had deficiency in both. " 01/01/2020 - "No individual had deficiency of folic acid, vitamins B12, or B6, but 80% had post-oral methionine load hyperhomocysteinemia. "
4.	CreatinineIBA 11/01/2022 - "Across all study years, 21.8%-32.5% of participants had low serum vitamin B-12, 12.5%-17.0% had elevated urine MMA/creatinine, and 10.1%-12.7% had deficiency. "
5.	Fatty Acids (Saturated Fatty Acids)IBA 07/01/2012 - "Medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare cause of impaired mitochondrial fatty acid oxidation. " 11/01/2011 - "Authentic patient samples were utilized to develop reference intervals for control subjects, for those associated with patient samples confirmed at the molecular level to have either LCHAD or M/SCHAD deficiency and for patients who did not have disease but were fasting or on diets high in medium-chain fatty acids. " 10/01/1994 - "3-Hydroxyacyl-CoA dehydrogenase deficiency is a newly recognised fatty acid oxidation disorder with a usually fatal outcome. " 06/01/2015 - "Unlike other congenital fatty acid oxidation defects, short-chain L-3-hydroxyacyl-CoA (SCHAD, HADH) deficiency is characterised by hypoglycemia with hyperinsulinism in the neonatal or infancy periods. " 06/01/2011 - "Short-chain 3-hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency (OMIM #231530) represents a recently described disorder of mitochondrial fatty acid beta-oxidation, with less than ten cases described worldwide. "
6.	3-Hydroxyacyl-CoA DehydrogenaseIBA 09/01/2010 - "GDH has also been implicated in another form of HI, short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency associated HI. " 01/01/2001 - "[Short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency]." 01/01/1998 - "[Short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency]." 01/01/1994 - "Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency." 06/01/2011 - "Short-chain 3-hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency (OMIM #231530) represents a recently described disorder of mitochondrial fatty acid beta-oxidation, with less than ten cases described worldwide. "
7.	Proteins (Proteins, Gene)FDA Link 07/01/2019 - "Overall, 89 (36.1%) households were deficient for both energy and protein and 111 (47.6%) had deficiency of either of these two. " 09/01/2011 - "In SCHAD deficiency, the activation of GDH is due to loss of a direct inhibitory protein-protein interaction between SCHAD and GDH. " 06/03/1999 - "In 24 children with 3-hydroxyacyl-CoA dehydrogenase deficiency, we used DNA amplification and nucleotide-sequence analyses to identify mutations in the alpha subunit of the trifunctional protein. " 12/01/2018 - "He therefore had deficiency of CFHR proteins and autoantibody-positive hemolytic uremic syndrome (DEAP-HUS) with an unusual early onset associated with a partial deficiency of ADAMTS13 and an anti-ADAMTS13 autoantibody. " 08/01/1985 - "The lipolytic response to isoproterenol infusion was examined in seven normal subjects and six patients with pseudohypoparathyroidism type I [two had deficiency of the hormone receptor-cyclase coupling protein (N-protein) and four did not]. "
8.	Oxidoreductases (Dehydrogenase)IBA 03/28/2008 - "Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency." 09/01/2006 - "Medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase (M/SCHAD) deficiency is a recessively inherited disorder of fatty acid oxidation. " 07/01/1999 - "This report describes the clinical, biochemical, and pathological findings in three infants with hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase (SCHAD) deficiency, a recently recognized disorder of the mitochondrial oxidation of straight-chain fatty acids. " 10/01/2001 - "Six patients had deficiency of medium-chain acyl-CoA dehydrogenase, one had long-chain hydroxyacyl-CoA dehydrogenase deficiency, and one very long-chain acyl-CoA dehydrogenase deficiency. " 06/01/2007 - "3-hydroxyacyl-CoA dehydrogenase (HAD) deficiency replaces short-chain hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency as well as medium- and short-chain hydroxyacyl-CoA dehydrogenase (M/SCHAD) deficiency as the consensus name of this fatty acid oxidation disorder."
9.	Folic Acid (Vitamin M)FDA LinkGeneric 08/01/2018 - "88% of the women had insufficient RBC-folate to prevent birth defects, while 6.1% had deficiency. " 05/01/2007 - "In the north, 59% of the participants were deficient in either folate (<6.8 nmol/L) or vitamin B-12, and 17% had deficiency in both. " 07/01/1998 - "Two patients had deficiency of folic acid and four showed reduced levels of pancreatic isoamylase, but none of them had steatorrhoea. " 01/28/1995 - "Cobalamin deficiency was present in 9 patients (mean age 69 years); it was due to pernicious anemia in 6 patients and to malabsorption in 2, while the cause remained unexplained in 1. The last patients (mean age 76 years) had deficiency of both cobalamin and folate, related to alcoholism (n = 3) or poverty (n = 3)." 01/01/2020 - "No individual had deficiency of folic acid, vitamins B12, or B6, but 80% had post-oral methionine load hyperhomocysteinemia. "
10.	Protein SIBA 12/01/1993 - "Two patients had deficiency of protein C or protein S, but no other recognized biochemical disturbances related to thrombophilia were identified. " 06/01/2013 - "Two patients had deficiency of protein S, two had high homocysteine levels, one had deficiency of antithrombin 3, and one had increase in anticardiolipin immunoglobulin G antibody. " 06/01/2013 - "Two patients had deficiency of protein S, two had high homocysteine levels, one had deficiency of antithrombin 3, and one had increase in anticardiolipin Immunoglobulin antibody. " 06/01/2008 - "Three hundred fifty-four patients (38.5%) had deficiency of antithrombin (AT, n = 16), protein C (PC, n = 26), protein S (PS, n = 22), factor V Leiden (FVL, n = 168), prothrombin G20210A (PT-GA, n = 87), or multiple abnormalities (n = 35), and 566 had none of the studied thrombophilic abnormalities. "

Therapies and Procedures

1.	Transplantation 03/01/2007 - "Of those with infectious complications, 81% underwent transplantation before 4 years and had deficiency of pneumococcal-specific antibody response. "