2-methylbutyryl-coa Dehydrogenase Deficiency

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.

Clinical Features

Top most frequent phenotypes and symptoms related to 2-methylbutyryl-coa Dehydrogenase Deficiency

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Strabismus
  • Muscular hypotonia
  • Feeding difficulties
  • Motor delay
  • Skeletal muscle atrophy
  • Respiratory distress

And another 12 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

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.

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.


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2-methylbutyryl-coa Dehydrogenase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
ACADSB Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ACADSB
Specificity
100 %
Genes
100 %
ACADSB Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ACADSB
Specificity
100 %
Genes
100 %
ACADSB Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ACADSB
Specificity
100 %
Genes
100 %
ACADSB Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ACADSB
Specificity
100 %
Genes
100 %
ACADSB Sequence and Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ACADSB
Specificity
100 %
Genes
100 %
ACADSB Gene Sequencing.

By GeneDx (United States).

ACADSB
Specificity
100 %
Genes
100 %
Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC22A5, TAZ, LPIN1, SLC25A20, ACAD9, CPT1A, CPT2, FLAD1, DECR1, ECHS1, ETFA, ETFB, ETFDH, HADH, HSD17B10, HADHA, HADHB, HMGCL, HMGCS2, MLYCD , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

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