Hyperinsulinism Due To Short Chain 3-hydroxylacyl-coa Dehydrogenase Deficiency

Description

Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperinsulinism Due To Short Chain 3-hydroxylacyl-coa Dehydrogenase Deficiency

  • Failure to thrive
  • Motor delay
  • Peripheral neuropathy
  • Intrauterine growth retardation
  • Vomiting
  • Diarrhea
  • Elevated hepatic transaminase
  • Neonatal hypotonia
  • Hypertrophic cardiomyopathy
  • Feeding difficulties in infancy

And another 26 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hyperinsulinism Due To Short Chain 3-hydroxylacyl-coa Dehydrogenase Deficiency Is also known as hyperinsulinism due to glutamodehydrogenase deficiency, hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency, schad deficiency, hyperinsulinism due to schad deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Hyperinsulinism Due To Short Chain 3-hydroxylacyl-coa Dehydrogenase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Fatty Acid Oxidation Deficiency.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SLC22A5, TAZ, LPIN1, SLC25A20, ACAD9, CPT1A, CPT1B, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HSD17B10, HADHA, HADHB, HMGCL, HMGCS2, ACADL, ACADM , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Level 2: Expanded Congenital Hyperinsulinism Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

SLC16A1, GCK, GLUD1, HADH, ABCC8, KCNJ11
Specificity
17 %
Genes
100 %
MetaboSeq Fatty Acid Oxidation Disorders Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SLC22A5, TAZ, SLC25A20, ACAD9, CPT1A, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HSD17B10, HADHA, HADHB, HMGCL, ACADM, ACADS, ACADVL, PPARG
Specificity
6 %
Genes
100 %
HADH Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

HADH
Specificity
100 %
Genes
100 %
MetaboSeq Fatty Acid Oxidation Disorders deletion/duplication panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SLC22A5, TAZ, SLC25A20, ACAD9, CPT1A, CPT2, ETFA, ETFB, ETFDH, HADH, HSD17B10, HADHA, HADHB, HMGCL, ACADM, ACADS, ACADVL, PPARG
Specificity
6 %
Genes
100 %
HADH Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

HADH
Specificity
100 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %

You can get up to 70 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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