ETFDH gene related symptoms and diseases

All the information presented here about the ETFDH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to ETFDH gene

Symptoms // Phenotype	% Cases
Intellectual disability	Uncommon - Between 30% and 50% cases
Rhabdomyolysis	Uncommon - Between 30% and 50% cases
Back pain	Uncommon - Between 30% and 50% cases
Hemiplegia	Uncommon - Between 30% and 50% cases
Stridor	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ETFDH gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Ventricular fibrillation
Restrictive ventilatory defect
Difficulty climbing stairs
Glycosuria
Acute kidney injury
Slurred speech
Fatigable weakness
Drowsiness

And 149 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ETFDH gene

Here you will find a list of rare diseases related to the ETFDH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Alternate names

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema, ethylmalonic-adipicaciduria, glutaric aciduria ii, ga ii, glutaric acidemia ii, ga2

Description

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

Most common symptoms of MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Ataxia

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

SOURCES: OMIM ORPHANET

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY, SEVERE NEONATAL TYPE

Alternate names

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY, SEVERE NEONATAL TYPE Is also known as mad deficiency, severe neonatal type, madd, severe neonatal type, glutaric aciduria type 2, severe neonatal type

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY, SEVERE NEONATAL TYPE

SOURCES: ORPHANET

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY, MILD TYPE

Alternate names

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY, MILD TYPE Is also known as mad deficiency, mild type, glutaric aciduria type 2, mild type, madd, mild type

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY, MILD TYPE

SOURCES: ORPHANET

Search interest in ETFDH

Potential gene panels for ETFDH gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

ETFDH gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ETFDH gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to ETFDH gene

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Alternate names

Description

Most common symptoms of MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY, SEVERE NEONATAL TYPE

Alternate names

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY, MILD TYPE

Alternate names

Search interest in ETFDH

Potential gene panels for ETFDH gene

MitoMet®Plus aCGH Analysis Panel

ETFDH Comprehensive - Sequence & Deletion/Duplication Analysis Panel

ETFDH Deletion/Duplication Analysis Panel

ETFDH Sequence Analysis (Prenatal Diagnosis) Panel

ETFDH Sequence Analysis Panel

Multiple Acyl-CoA Dehydrogenase Deficiency Panel Panel

Multiple Acyl-CoA Dehydrogenase Deficiency Comprehensive Panel (Sequencing and Deletion/Duplication Analysis) Panel

Multiple Acyl-CoA Dehydrogenase Deficiency Deletion/Duplication Panel Panel

Multiple Acyl-CoA Dehydrogenase Deficiency Panel Panel

Fatty Acid Oxidation Panel (MitomeNGS) Panel

NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel

NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel

Glutaric Acidemia Type 2 - ETFDH Sequencing Panel

Glutaric Acidemia Type 2 - ETFDH Del/Dup Analysis Panel

Comprehensive Mitochondrial Metabolic Panel Panel

Fatty Acid Oxidation Deficiency Panel

MetaboSeq Fatty Acid Oxidation Disorders Panel by next-generation sequencing (NGS) Panel

ETFDH Sequencing Panel

MetaboSeq Fatty Acid Oxidation Disorders deletion/duplication panel Panel

ETFDH Deletion/duplication analysis Panel

Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel

ETFDH Gene Sequencing Panel

Fatty acid metabolism/ketogenesis disorders Panel

Glutaric aciduria, type 2 Panel

Fatty acid metabolism/ketogenesis disorders Panel

Rhabdomyolysis Panel

ETFDH. Complete sequencing Panel

Glutaric aciduria type 2 (sequence analysis of ETFDH gene) Panel

Coenzyme Q10 deficiency (NGS panel for 8 genes) Panel

Multiple Acyl-CoA Dehydrogenase Deficiency Panel

Glutaric Acidemia Type II via ETFDH Gene Sequencing with CNV Detection Panel

Glutaric Acidemia Type II Sequencing Panel with CNV Detection Panel

Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel with CNV Detection Panel

Hyperammonemia Sequencing Panel with CNV Detection Panel

Organic Aciduria Sequencing Panel with CNV Detection Panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel

Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection Panel

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

Hereditary kidney disorders - different panels Panel

Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis Panel

CoQ10 Deficiency Panel

Muscle Pain - fluctuating CK - Rhabdomyolysis Panel

Multiple Acyl-CoA Dehydrogenase Deficiency Panel

Heart Diseases - panels Panel

Neurogenetic Disorders - panels Panel

Epilepsy and Mitochondrial Encephalopathy Panel

Mitochondrial Diseases Panel

Mitochondrial Myopathy Panel

Mitochondrial Encephalopathy Panel

Episodic Ataxia and Phenocopies Panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Epilepsy Panel

Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel

Comprehensive mitochondrial disorders panel Panel

Metabolic myopathies panel Panel

AllNeuro panel Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

Acyl-CoA, multiple, dehydrogenase deficiency Panel

Riboflavinresponsive multiple acyl-CoA dehydrogenase deficiency Panel

Metabolic Epilepsy Panel Panel

Coenzyme Q Deficiency Panel Panel

Glutaric Aciduria Panel Panel

Metabolic Myopathies Panel Panel