MCID: MLY011
MIFTS: 16

Maleylacetoacetate Isomerase Deficiency

Categories: Genetic diseases

Aliases & Classifications for Maleylacetoacetate Isomerase Deficiency

MalaCards integrated aliases for Maleylacetoacetate Isomerase Deficiency:

Name: Maleylacetoacetate Isomerase Deficiency 57 75 6
Benign Hypersuccinylacetonemia 57 75
Hypersuccinylacetonemia, Mild 57 75
Maai Deficiency 57 75
Maaid 57 75
Mhsa 57 75
Bhsa 57 75
Benign Hypersuccinylacetonemia; Bhsa 57
Hypersuccinylacetonemia, Mild; Mhsa 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
benign disorder


Classifications:



External Ids:

OMIM 57 617596
MeSH 44 D008661

Summaries for Maleylacetoacetate Isomerase Deficiency

OMIM : 57 Deficiency of maleylacetoacetate isomerase (MAAID) is characterized by mild elevations in succinylacetone in blood and urine, usually identified by newborn screening. Liver function and coagulation are normal. MAAID is differentiated from hepatorenal tyrosinemia (TYRSN1; 276700), which is also identified by hypersuccinylacetonemia on newborn screening but is a severe disorder with hepatic failure, renal tubulopathy, rickets, and porphyria-like neurologic crises. MAAID and TYRSN1 are caused by mutations in genes encoding the penultimate and ultimate enzymes, respectively, in the phenylalanine and tyrosine degradation pathway (summary by Yang et al., 2017). (617596)

MalaCards based summary : Maleylacetoacetate Isomerase Deficiency, is also known as benign hypersuccinylacetonemia. An important gene associated with Maleylacetoacetate Isomerase Deficiency is GSTZ1 (Glutathione S-Transferase Zeta 1). Affiliated tissues include liver.

UniProtKB/Swiss-Prot : 75 Maleylacetoacetate isomerase deficiency: An autosomal recessive inborn error of metabolism characterized by mild elevations in succinylacetone in blood and urine, usually identified by newborn screening. Liver function and coagulation are normal. MAAID is a benign disorder.

Related Diseases for Maleylacetoacetate Isomerase Deficiency

Symptoms & Phenotypes for Maleylacetoacetate Isomerase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
normal liver function

Laboratory Abnormalities:
mildly elevated succinylacetone in blood and urine seen on newborn screening
hypersuccinylacetonemia, benign

Hematology:
normal coagulation


Clinical features from OMIM:

617596

Drugs & Therapeutics for Maleylacetoacetate Isomerase Deficiency

Search Clinical Trials , NIH Clinical Center for Maleylacetoacetate Isomerase Deficiency

Genetic Tests for Maleylacetoacetate Isomerase Deficiency

Anatomical Context for Maleylacetoacetate Isomerase Deficiency

MalaCards organs/tissues related to Maleylacetoacetate Isomerase Deficiency:

41
Liver

Publications for Maleylacetoacetate Isomerase Deficiency

Articles related to Maleylacetoacetate Isomerase Deficiency:

# Title Authors Year
1
Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency. ( 27876694 )
2017

Variations for Maleylacetoacetate Isomerase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Maleylacetoacetate Isomerase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 GSTZ1 p.Val99Met VAR_079260
2 GSTZ1 p.Ala150Val VAR_079261

ClinVar genetic disease variations for Maleylacetoacetate Isomerase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GSTZ1 NM_145870.2(GSTZ1): c.449C> T (p.Ala150Val) single nucleotide variant Affects rs199552988 GRCh37 Chromosome 14, 77796125: 77796125
2 GSTZ1 NM_145870.2(GSTZ1): c.449C> T (p.Ala150Val) single nucleotide variant Affects rs199552988 GRCh38 Chromosome 14, 77329782: 77329782
3 GSTZ1 NM_145870.2(GSTZ1): c.259C> T (p.Arg87Ter) single nucleotide variant Affects rs747265163 GRCh37 Chromosome 14, 77794297: 77794297
4 GSTZ1 NM_145870.2(GSTZ1): c.259C> T (p.Arg87Ter) single nucleotide variant Affects rs747265163 GRCh38 Chromosome 14, 77327954: 77327954
5 GSTZ1 NM_145870.2(GSTZ1): c.68-12G> A single nucleotide variant Affects rs776678047 GRCh38 Chromosome 14, 77326826: 77326826
6 GSTZ1 NM_145870.2(GSTZ1): c.68-12G> A single nucleotide variant Affects rs776678047 GRCh37 Chromosome 14, 77793169: 77793169
7 GSTZ1 NM_145870.2(GSTZ1): c.295G> A (p.Val99Met) single nucleotide variant Affects rs140540096 GRCh37 Chromosome 14, 77794333: 77794333
8 GSTZ1 NM_145870.2(GSTZ1): c.295G> A (p.Val99Met) single nucleotide variant Affects rs140540096 GRCh38 Chromosome 14, 77327990: 77327990

Expression for Maleylacetoacetate Isomerase Deficiency

Search GEO for disease gene expression data for Maleylacetoacetate Isomerase Deficiency.

Pathways for Maleylacetoacetate Isomerase Deficiency

GO Terms for Maleylacetoacetate Isomerase Deficiency

Sources for Maleylacetoacetate Isomerase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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