Maple Syrup Urine Disease, Mild Variant; Msudmv

Description

The mild variant of MSUD is characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth. Treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes; however, plasma levels of BCAA may remain elevated (summary by Oyarzabal et al., 2013).For a general description and a discussion of genetic heterogeneity of maple syrup urine disease, see {248600}.

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.

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.

Maple Syrup Urine Disease, Mild Variant; Msudmv Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
New Born testing (CentoICU).

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 %
Single gene testing PPM1K.

By CeGaT GmbH (Germany).

PPM1K
Specificity
100 %
Genes
100 %
Invitae Organic Acidemias Panel.

By Invitae (United States).

SLC25A1, BTD, SUCLA2, SUCLG1, TAZ, MCEE, MMAA, MMAB, L2HGDH, SERAC1, ETHE1, MMACHC, MMADHC, PPM1K, TMEM70, DBT, ACSF3, D2HGDH, DNAJC19, ETFA , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Invitae Elevated Leucine Panel.

By Invitae (United States).

PPM1K, DBT, DLD, BCKDHA, BCKDHB
Specificity
20 %
Genes
100 %
Invitae Metabolic Disorders Newborn Screening Confirmation Panel.

By Invitae (United States).

SLC22A5, SLC25A13, SLC25A15, SMPD1, BTD, SPR, SUCLA2, SUCLG1, TAT, TAZ, SLC25A20, CBS, CD320, MCEE, NAGS, CFTR, MMAA, MMAB, SERAC1, LMBRD1 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Invitae Maple Syrup Urine Disease Panel.

By Invitae (United States).

PPM1K, DBT, BCKDHA, BCKDHB
Specificity
25 %
Genes
100 %
Invitae Treatable Neurometabolic Disorders Panel.

By Invitae (United States).

SGSH, SLC25A13, SLC25A15, SLC2A1, SLC6A8, BTD, SPR, TAT, TH, NPC2, AMN, CBS, PANK2, SLC19A3, NAGS, MMAA, PSAT1, MMAB, TPP1, PDHX , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %

You can get up to 2 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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