MCID: MPL011
MIFTS: 11

Maple Syrup Urine Disease, Mild Variant

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Maple Syrup Urine Disease, Mild Variant

MalaCards integrated aliases for Maple Syrup Urine Disease, Mild Variant:

Name: Maple Syrup Urine Disease, Mild Variant 57 75 29 13 6 40 73
Msudmv 57 75

Classifications:



External Ids:

OMIM 57 615135
MeSH 44 D008375
UMLS 73 C3554575

Summaries for Maple Syrup Urine Disease, Mild Variant

UniProtKB/Swiss-Prot : 75 Maple syrup urine disease, mild variant: A mild form of maple syrup urine disease, a metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. MSUDMV 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.

MalaCards based summary : Maple Syrup Urine Disease, Mild Variant, is also known as msudmv. An important gene associated with Maple Syrup Urine Disease, Mild Variant is PPM1K (Protein Phosphatase, Mg2+/Mn2+ Dependent 1K). Related phenotype is elevated plasma branched chain amino acids.

OMIM : 57 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. (615135)

Related Diseases for Maple Syrup Urine Disease, Mild Variant

Symptoms & Phenotypes for Maple Syrup Urine Disease, Mild Variant

Clinical features from OMIM:

615135

Human phenotypes related to Maple Syrup Urine Disease, Mild Variant:

32
# Description HPO Frequency HPO Source Accession
1 elevated plasma branched chain amino acids 32 HP:0008344

Drugs & Therapeutics for Maple Syrup Urine Disease, Mild Variant

Search Clinical Trials , NIH Clinical Center for Maple Syrup Urine Disease, Mild Variant

Genetic Tests for Maple Syrup Urine Disease, Mild Variant

Genetic tests related to Maple Syrup Urine Disease, Mild Variant:

# Genetic test Affiliating Genes
1 Maple Syrup Urine Disease, Mild Variant 29 PPM1K

Anatomical Context for Maple Syrup Urine Disease, Mild Variant

Publications for Maple Syrup Urine Disease, Mild Variant

Variations for Maple Syrup Urine Disease, Mild Variant

ClinVar genetic disease variations for Maple Syrup Urine Disease, Mild Variant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PPM1K PPM1K, 2-BP DEL, 417TA deletion Pathogenic
2 PPM1K NM_152542.4(PPM1K): c.978G> A (p.Val326=) single nucleotide variant Benign rs34981823 GRCh38 Chromosome 4, 88265010: 88265010
3 PPM1K NM_152542.4(PPM1K): c.978G> A (p.Val326=) single nucleotide variant Benign rs34981823 GRCh37 Chromosome 4, 89186162: 89186162
4 PPM1K NM_152542.4(PPM1K): c.481A> G (p.Thr161Ala) single nucleotide variant Benign rs113436519 GRCh38 Chromosome 4, 88277203: 88277203
5 PPM1K NM_152542.4(PPM1K): c.481A> G (p.Thr161Ala) single nucleotide variant Benign rs113436519 GRCh37 Chromosome 4, 89198355: 89198355
6 PPM1K NM_152542.4(PPM1K): c.339C> T (p.Phe113=) single nucleotide variant Benign rs116564150 GRCh37 Chromosome 4, 89199397: 89199397
7 PPM1K NM_152542.4(PPM1K): c.339C> T (p.Phe113=) single nucleotide variant Benign rs116564150 GRCh38 Chromosome 4, 88278245: 88278245

Expression for Maple Syrup Urine Disease, Mild Variant

Search GEO for disease gene expression data for Maple Syrup Urine Disease, Mild Variant.

Pathways for Maple Syrup Urine Disease, Mild Variant

GO Terms for Maple Syrup Urine Disease, Mild Variant

Sources for Maple Syrup Urine Disease, Mild Variant

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
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74 UMLS via Orphanet
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