ACADSB gene related symptoms and diseases

All the information presented here about the ACADSB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,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 ACADSB gene

Symptoms // Phenotype	% Cases
Seizures	Very Common - Between 80% and 100% cases
Apnea	Very Common - Between 80% and 100% cases
Hyperglycinuria	Very Common - Between 80% and 100% cases
Hypothermia	Very Common - Between 80% and 100% cases
Poor eye contact	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

Commonly - More than 50% cases
Generalized amyotrophy
Exotropia
Coma
Lethargy
Irritability
Hypoglycemia
Global developmental delay
Vomiting

And 9 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ACADSB gene

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

2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY

Alternate names

2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY Is also known as sbcadd, sbcad deficiency, short/branched-chain acyl-coa dehydrogenase deficiency, developmental delay due to 2-methylbutyryl-coa dehydrogenase deficiency, 2-methylbutyric aciduria, 2-methylbutyryl glycinuria

Description

2-Methylbutyryl-CoA dehydrogenase (or Short/branched-chain acyl-coA dehydrogenase; SBCAD) deficiency is characterized by increased urinary excretion of 2-methylbutyrylglycine, and increased whole blood and plasma concentrations of 2-methylbutyryl (C5) carnitine. It has been described in less than 30 patients, mostly from the Hmong population, an ethnic group of Chinese origin. The phenotype is not well defined, ranging from completely asymptomatic patients to those with muscle hypotonia, cerebral palsy, developmental delay, lethargy, hypoglycemia, and metabolic acidosis. The disorder is transmitted as an autosomal recessive trait. The SBCAD enzyme catalyzes the conversion of 2-methylbutyryl-CoA to tiglyl-CoA in the isoleucine catabolic pathway. Mutations in the SBCAD gene (located on chromosome 10q25-26) have been reported in affected patients. Treatment includes carnitine supplementation and a low-protein diet.

Most common symptoms of 2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY

Seizures
Global developmental delay
Generalized hypotonia
Microcephaly
Strabismus

More info about 2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY

SOURCES: OMIM ORPHANET MESH

Search interest in ACADSB

Potential gene panels for ACADSB 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

ACADSB gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ACADSB gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to ACADSB gene

2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY

Alternate names

Description

Most common symptoms of 2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY

Search interest in ACADSB

Potential gene panels for ACADSB gene

MitoMet®Plus aCGH Analysis Panel

ACADSB Deletion/Duplication Analysis Panel

ACADSB Familial Mutation/Variant Analysis Panel

ACADSB Prenatal Sequence Analysis Panel

ACADSB Sequence Analysis Panel

ACADSB Sequence and Deletion/Duplication Analysis Panel

ACADSB Gene Sequencing Panel

Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection Panel

2-Methylbutyryl-CoA dehydrogenase (ACADSB ) deficiency Panel

Comprehensive mitochondrial disorders panel Panel

AllNeuro panel Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

2-methylbutyrylglycinuria Panel

Nuclear encoded Mitochondriopathies Panel Panel

ACADSB Panel

qCarrier Plus Panel

Invitae Organic Acidemias Panel Panel

Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel

Invitae Fatty Acid Oxidation Defects Panel Panel

Invitae Elevated C5 Panel Panel

Nuclear-Mito NGS Panel Panel

ACADSB Panel

Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel

Comprehensive Metabolism Panel Panel

Fatty Acid Oxidation Syndrome Panel Panel

Baby Genes Targeted Panel Panel

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

2-methylbutyryl-CoA Dehydrogenase Deficiency: Full gene sequencing (Rapid testing) Panel