GSTZ1 gene related symptoms and diseases

All the information presented here about the GSTZ1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GSTZ1 gene

Symptoms // Phenotype % Cases
Hepatic failure Very Common - Between 80% and 100% cases
Rickets Very Common - Between 80% and 100% cases
Hypertyrosinemia Very Common - Between 80% and 100% cases

Rare diseases associated to GSTZ1 gene

Here you will find a list of rare diseases related to the GSTZ1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MALEYLACETOACETATE ISOMERASE DEFICIENCY; MAAID


Alternate names

MALEYLACETOACETATE ISOMERASE DEFICIENCY; MAAID Is also known as mhsa, maai deficiency, bhsa, hypersuccinylacetonemia, mild, benign hypersuccinylacetonemia

Description

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 ), 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).

Most common symptoms of MALEYLACETOACETATE ISOMERASE DEFICIENCY; MAAID

  • Hepatic failure
  • Rickets
  • Hypertyrosinemia


More info about MALEYLACETOACETATE ISOMERASE DEFICIENCY; MAAID

SOURCES: OMIM


Potential gene panels for GSTZ1 gene

Tyrosinemia type Ib (sequence analysis of GSTZ1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GSTZ1 gene.

More info about this panel

Tyrosinemia type 1B Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GSTZ1 gene.

More info about this panel

GSTZ1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GSTZ1 gene.

More info about this panel

Tyrosinemia NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Tyrosinemia NGS and Deletion/Duplication Panel that also includes the following genes: TAT FAH GSTZ1 HPD

More info about this panel


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