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

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Hyperinsulinism Due To Short Chain 3-hydroxylacyl-coa Dehydrogenase Deficiency

HADH

View recommended genes panels

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.

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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 Panel complete gene list SLC22A5, TAZ, LPIN1, SLC25A20, ACAD9, CPT1A, CPT1B, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HSD17B10, HADHA, HADHB, HMGCL, HMGCS2, ACADL, ACADM, ACADS, ACADVL 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 Panel complete gene list BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT, EIF2AK3, AIRE, AKT2, GATA4, GATA6, GCK, GLUD1, HADH, MNX1, ABCC8, IL2RA, INS, INSR, FOXP3, PDX1, KCNJ11, NEUROD1, NKX2-2, PAX4, PCBD1, DNAJC3 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 Panel complete gene list BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT, EIF2AK3, AIRE, AKT2, GATA4, GATA6, GCK, GLUD1, HADH, MNX1, ABCC8, IL2RA, INS, INSR, FOXP3, PDX1, KCNJ11, NEUROD1, NKX2-2, PAX4, PCBD1, DNAJC3 Specificity 3 % Genes 100 %

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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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