Developmental Delay Due To Methylmalonate Semialdehyde Dehydrogenase Deficiency

Description

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

Clinical Features

Top most frequent phenotypes and symptoms related to Developmental Delay Due To Methylmalonate Semialdehyde Dehydrogenase Deficiency

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape
  • Muscular hypotonia
  • Cataract
  • High palate
  • Feeding difficulties
  • Depressed nasal bridge

And another 23 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

Developmental Delay Due To Methylmalonate Semialdehyde Dehydrogenase Deficiency Is also known as mmsdh deficiency, developmental delay due to aldh6a1 deficiency, developmental delay due to mmsdh 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.


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Developmental Delay Due To Methylmalonate Semialdehyde 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 %
Methylmalonic Acidemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SUCLA2, SUCLG1, CD320, MCEE, MMAA, MMAB, MMADHC, ACSF3, MLYCD, ALDH6A1, MMUT
Specificity
10 %
Genes
100 %
Organic Aciduria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC25A1, CD320, MCEE, MMAA, MMAB, L2HGDH, MMACHC, MMADHC, DBT, ACSF3, D2HGDH, DLD, ETFA, ETFB, ETFDH, GCDH, HLCS, IDH2, IVD, MCCC1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SUCLA2, SUCLG1, TCN1, TCN2, AMN, CBS, CD320, MCEE, MMAA, MMAB, LMBRD1, MMACHC, MMADHC, CUBN, ACSF3, SLC46A1, AHCY, FOLR1, CBLIF, GNMT , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Methylmalonate Semialdehyde Dehydrogenase Deficiency via ALDH6A1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ALDH6A1
Specificity
100 %
Genes
100 %
Methylmalonate semialdehyde dehydrogenase (MMSDH) deficiency (ALDH6A1).

By VU University Medical Center Metabolic Unit, PX 1X 009 (Netherlands).

ALDH6A1
Specificity
100 %
Genes
100 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company (Germany).

RNASEL, BCS1L, MRPL3, SARDH, SCO1, SCO2, SCP2, SDHA, SDHB, SDHC, SDHD, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC9A6, SOD2, SPG7, STAR , (...)

View the complete list with 156 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %

We have 7 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Genetic Syndrome Finder

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