MCID: HYP657
MIFTS: 29

Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency

Categories: Neuronal diseases, Metabolic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa...

MalaCards integrated aliases for Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency:

Name: Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency 59
Hyperinsulinemic Hypoglycemia Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency 59
Hyperinsulinism Due to Glutamodehydrogenase Deficiency 59
3-Hydroxyacyl-Coa Dehydrogenase Deficiency 73
Hyperinsulinism Due to Schad Deficiency 59
Schad Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:



Summaries for Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa...

MalaCards based summary : Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency, also known as hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency, is related to hyperinsulinism due to glutamodehydrogenase deficiency and 3-hydroxyacyl-coa dehydrogenase deficiency. An important gene associated with Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency is HADH (Hydroxyacyl-CoA Dehydrogenase). Affiliated tissues include liver, fetal liver and skeletal muscle, and related phenotypes are decreased activity of 3-hydroxyacyl-coa dehydrogenase and hyperinsulinemic hypoglycemia

Related Diseases for Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa...

Diseases related to Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperinsulinism due to glutamodehydrogenase deficiency 12.4
2 3-hydroxyacyl-coa dehydrogenase deficiency 11.8
3 3-alpha hydroxyacyl-coa dehydrogenase deficiency 11.0

Symptoms & Phenotypes for Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa...

Human phenotypes related to Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased activity of 3-hydroxyacyl-coa dehydrogenase 59 32 obligate (100%) Obligate (100%) HP:0100950
2 hyperinsulinemic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000825
3 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
4 confusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0001289
5 neonatal hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001319
6 hepatic steatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001397
7 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
8 hypoketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001985
9 neonatal hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001998
10 vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002013
11 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
12 hypoglycemic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002173
13 elevated hepatic transaminases 59 32 hallmark (90%) Very frequent (99-80%) HP:0002910
14 dicarboxylic aciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003215
15 proportionate short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003508
16 hypoglycemic encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0006929
17 fasting hyperinsulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008283
18 abnormality of acetylcarnitine metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0012071
19 increased circulating free fatty acid level 59 32 hallmark (90%) Very frequent (99-80%) HP:0030781
20 increased c-peptide level 59 32 hallmark (90%) Very frequent (99-80%) HP:0030796
21 pigmentary retinopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000580
22 motor delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001270
23 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
24 hyperammonemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001987
25 lactic acidosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003128
26 decreased plasma carnitine 59 32 occasional (7.5%) Occasional (29-5%) HP:0003234
27 prolonged prothrombin time 59 32 occasional (7.5%) Occasional (29-5%) HP:0008151
28 mildly elevated creatine phosphokinase 59 32 occasional (7.5%) Occasional (29-5%) HP:0008180
29 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
30 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
31 hypertrophic cardiomyopathy 59 32 very rare (1%) Very rare (<4-1%) HP:0001639
32 dilated cardiomyopathy 59 32 very rare (1%) Very rare (<4-1%) HP:0001644
33 prolonged qt interval 59 32 very rare (1%) Very rare (<4-1%) HP:0001657
34 hepatic necrosis 59 32 very rare (1%) Very rare (<4-1%) HP:0002605
35 myoglobinuria 59 32 very rare (1%) Very rare (<4-1%) HP:0002913
36 acute hepatic failure 59 32 very rare (1%) Very rare (<4-1%) HP:0006554

Drugs & Therapeutics for Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa...

Search Clinical Trials , NIH Clinical Center for Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency

Genetic Tests for Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa...

Anatomical Context for Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa...

MalaCards organs/tissues related to Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency:

41
Liver, Fetal Liver, Skeletal Muscle, Brain, Eye

Publications for Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa...

Articles related to Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 68)
# Title Authors Year
1
High prevalence of carriers of variant c.1528G&amp;gt;C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland. ( 29095929 )
2017
2
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function. ( 27461099 )
2016
3
Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy. ( 27078015 )
2016
4
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients. ( 26653362 )
2016
5
Early dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can maintain vision despite subnormal retinal function. ( 27639177 )
2016
6
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. ( 26896063 )
2016
7
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 26676313 )
2016
8
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. ( 26024122 )
2015
9
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. ( 23430524 )
2013
10
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. ( 23430857 )
2012
11
Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening. ( 22579592 )
2012
12
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. ( 21347589 )
2011
13
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. ( 20670938 )
2010
14
A comprehensive HADHA c.1528G&amp;gt;C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. ( 20814823 )
2010
15
[Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]. ( 19107076 )
2008
16
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: presentation of a long-term survivor. ( 18465739 )
2008
17
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Presentation of a long-term survivor. ( 28221621 )
2008
18
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up. ( 18162058 )
2008
19
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with inadvertent caries in infants. ( 17181583 )
2007
20
Ten year follow up of pigmentary retinopathy associated with 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 16167072 )
2006
21
Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 15347768 )
2004
22
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12872842 )
2003
23
What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency? ( 12971423 )
2003
24
Analysis of isomeric long-chain hydroxy fatty acids by tandem mass spectrometry: application to the diagnosis of long-chain 3-hydroxyacyl CoA dehydrogenase deficiency. ( 12512097 )
2003
25
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). ( 12660866 )
2003
26
Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12971430 )
2003
27
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle? ( 14641012 )
2003
28
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12809642 )
2003
29
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. ( 11773547 )
2002
30
[LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant]. ( 12637776 )
2002
31
Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12537820 )
2001
32
Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 11719334 )
2001
33
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings. ( 10653342 )
2000
34
Stable pigmentary retinopathy in a child with 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 11040918 )
2000
35
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. ( 10682306 )
2000
36
Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls. ( 10789927 )
2000
37
Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey. ( 10234607 )
1999
38
Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry. ( 10518286 )
1999
39
Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 10384386 )
1999
40
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 10229030 )
1999
41
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities. ( 10638050 )
1999
42
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. ( 10518281 )
1999
43
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal manifestation at the first day of life presenting with tachypnoea. ( 10518285 )
1999
44
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications. ( 10331463 )
1999
45
Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. ( 9663844 )
1998
46
Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy. ( 9593380 )
1998
47
Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. ( 9185222 )
1997
48
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations. ( 9266371 )
1997
49
Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 9240910 )
1997
50
Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation. ( 8938697 )
1996

Variations for Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa...

Expression for Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa...

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Pathways for Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa...

GO Terms for Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa...

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