MCID: MPL011
MIFTS: 12

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 53 71 28 13 69
Msudmv 53 71

Classifications:



External Ids:

OMIM 53 615135
MeSH 41 D008375
UMLS 69 C3554575

Summaries for Maple Syrup Urine Disease, Mild Variant

UniProtKB/Swiss-Prot : 71 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, also known as msudmv, is related to maple syrup urine disease, and has symptoms including elevated plasma branched chain amino acids An important gene associated with Maple Syrup Urine Disease, Mild Variant is PPM1K (Protein Phosphatase, Mg2+/Mn2+ Dependent 1K).

OMIM : 53 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

Diseases related to Maple Syrup Urine Disease, Mild Variant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 maple syrup urine disease 10.1

Symptoms & Phenotypes for Maple Syrup Urine Disease, Mild Variant

Clinical features from OMIM:

615135

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

31
# Description HPO Frequency HPO Source Accession
1 elevated plasma branched chain amino acids 31 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 28 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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