Maleylacetoacetate Isomerase Deficiency; Maaid

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).

Clinical Features

Phenotypes and symptoms related to Maleylacetoacetate Isomerase Deficiency; Maaid

  • Hepatic failure
  • Rickets
  • Hypertyrosinemia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Maleylacetoacetate Isomerase Deficiency; Maaid Is also known as mhsa, maai deficiency, bhsa, hypersuccinylacetonemia, mild, benign hypersuccinylacetonemia.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Maleylacetoacetate Isomerase Deficiency; Maaid Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Tyrosinemia type Ib (sequence analysis of GSTZ1 gene).

By CGC Genetics (Portugal).

GSTZ1
Specificity
100 %
Genes
100 %
Tyrosinemia type 1B.

By Centogene AG - the Rare Disease Company (Germany).

GSTZ1
Specificity
100 %
Genes
100 %
GSTZ1.

By Fulgent Genetics Fulgent Genetics (United States).

GSTZ1
Specificity
100 %
Genes
100 %
Tyrosinemia NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children (United States).

TAT, FAH, GSTZ1, HPD
Specificity
25 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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