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Aminoacylase 1 deficiency associated with autistic behavior
Author(s) -
TylkiSzymanska Anna,
Gradowska Wanda,
Sommer Anke,
Heer Angelina,
Walter Melanie,
Reinhard Christina,
Omran Heymut,
Sass Jörn Oliver,
Jurecka Agnieszka
Publication year - 2010
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-010-9089-3
Subject(s) - isoleucine , maple syrup urine disease , valine , methionine , inborn error of metabolism , leucine , homocystinuria , hyperglycinemia , medicine , metabolism , abnormality , endocrinology , amino acid , biochemistry , glycine , biology , psychiatry
Aminoacylase 1 (ACY1) deficiency is a recently described inborn error of metabolism. Most of the patients reported so far have presented with rather heterogeneous neurologic symptoms. At this moment, it is not clear whether ACY1 deficiency represents a true metabolic disease with a causal relationship between the enzyme defect and the clinical phenotype or merely a biochemical abnormality. Here we present a patient identified in the course of selective screening for inborn errors of metabolism (IEM). The patient was diagnosed with autistic syndrome and admitted to the Children's Memorial Health Institute (CMHI) for metabolic evaluation. Organic acid analysis using gas chromatography–mass spectrometry (GC‐MS) revealed increased urinary excretion of several N ‐acetylated amino acids, including the derivatives of methionine, glutamic acid, alanine, glycine, leucine, isoleucine, and valine. In Epstein‐Barr virus (EBV)‐transformed lymphoblasts, ACY1 activity was deficient. The mutation analysis showed a homozygous c.1057C>T transition, predicting a p.Arg353Cys substitution. Both parents were heterozygous for the mutation and had normal results in the organic acid analysis using GC‐MS. This article reports the findings of an ACY1‐deficient patient presenting with autistic features.