MAAID
MCID: MLY011
MIFTS: 19

Maleylacetoacetate Isomerase Deficiency (MAAID)

Categories: Blood diseases, Genetic diseases, Liver diseases, Nephrological diseases

Aliases & Classifications for Maleylacetoacetate Isomerase Deficiency

MalaCards integrated aliases for Maleylacetoacetate Isomerase Deficiency:

Name: Maleylacetoacetate Isomerase Deficiency 56 73 29 6
Benign Hypersuccinylacetonemia 56 73
Hypersuccinylacetonemia, Mild 56 73
Maai Deficiency 56 73
Maaid 56 73
Mhsa 56 73
Bhsa 56 73
Benign Hypersuccinylacetonemia; Bhsa 56
Hypersuccinylacetonemia, Mild; Mhsa 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
benign disorder


HPO:

31
maleylacetoacetate isomerase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 617596
MeSH 43 D008661
SNOMED-CT via HPO 68 258211005

Summaries for Maleylacetoacetate Isomerase Deficiency

OMIM : 56 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, also known as benign hypersuccinylacetonemia, is related to tyrosinemia. An important gene associated with Maleylacetoacetate Isomerase Deficiency is GSTZ1 (Glutathione S-Transferase Zeta 1). Affiliated tissues include liver.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 In enzymology, maleylacetoacetate isomerase (EC 5.2.1.2) is an enzyme that catalyzes the chemical... more...

Related Diseases for Maleylacetoacetate Isomerase Deficiency

Diseases related to Maleylacetoacetate Isomerase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tyrosinemia 10.3

Symptoms & Phenotypes for Maleylacetoacetate Isomerase Deficiency

Symptoms via clinical synopsis from OMIM:

56
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

Genetic tests related to Maleylacetoacetate Isomerase Deficiency:

# Genetic test Affiliating Genes
1 Maleylacetoacetate Isomerase Deficiency 29 GSTZ1

Anatomical Context for Maleylacetoacetate Isomerase Deficiency

MalaCards organs/tissues related to Maleylacetoacetate Isomerase Deficiency:

40
Liver

Publications for Maleylacetoacetate Isomerase Deficiency

Articles related to Maleylacetoacetate Isomerase Deficiency:

# Title Authors PMID Year
1
Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency. 6 56 61
27876694 2017

Variations for Maleylacetoacetate Isomerase Deficiency

ClinVar genetic disease variations for Maleylacetoacetate Isomerase Deficiency:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GSTZ1 NM_145870.3(GSTZ1):c.449C>T (p.Ala150Val)SNV Affects 431041 rs199552988 14:77796125-77796125 14:77329782-77329782
2 GSTZ1 NM_145870.3(GSTZ1):c.259C>T (p.Arg87Ter)SNV other 431042 rs747265163 14:77794297-77794297 14:77327954-77327954
3 GSTZ1 NM_145870.3(GSTZ1):c.68-12G>ASNV Affects 431043 rs776678047 14:77793169-77793169 14:77326826-77326826
4 GSTZ1 NM_145870.3(GSTZ1):c.295G>A (p.Val99Met)SNV Affects 431044 rs140540096 14:77794333-77794333 14:77327990-77327990
5 GSTZ1 NM_145870.3(GSTZ1):c.136-2A>GSNV Pathogenic 807427 14:77793813-77793813 14:77327470-77327470

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

73
# Symbol AA change Variation ID SNP ID
1 GSTZ1 p.Val99Met VAR_079260
2 GSTZ1 p.Ala150Val VAR_079261

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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