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Summary
MALEYLACETOACETATE ISOMERASE
MAAI DEFICIENCY HYPERSUCCINYLACETONEMIA, MILD MHSA
617596
OMIM = Online Medalian Inheritance of Men
---
14q24.3
rare
autosomal recessive
mutation of the GSTZ1 gene
symptoms
no consistent clinical signs or symptoms
onset, childhood
onset, infancy
onset, neonatal
laboratory finding
Succinylacetone0.201.20 +€mol/lplasma
Succinylacetone1.00100.00 mmol/mol creatinineurine
L-Pyroglutamic acid (5-Oxoproline)0.000.10 mmol/mol Creaurine
Literature
Society for Maternal-Fetal Medicine (SMFM), Norton MESociety for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalisAm J Obstet Gynecol2122129-1392015
Mulders-Manders CM,Simon AHyper-IgD syndrome/mevalonate kinase deficiency: what is new?Semin Immunopathol374371-3762015