Maleylacetoacetate Isomerase Deficiency (MAAID)

Alias:
Benign Hypersuccinylacetonemia
Hypersuccinylacetonemia, Mild
Maai Deficiency
Maaid
Mhsa
Bhsa
[maleylacetoacetate Isomerase Deficiency]
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Maleylacetoacetate Isomerase Deficiency, also known as benign hypersuccinylacetonemia, is related to tyrosinemia, type i and tyrosinemia. An important gene associated with Maleylacetoacetate Isomerase Deficiency is GSTZ1 (Glutathione S-Transferase Zeta 1). Affiliated tissues include liver and t cells, and related phenotype is decreased liver function.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
1
6
1

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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