Aminoacylase I deficiency: A novel inborn error of metabolism

Coster, Rudy N. Van; Gerlo, Erik; Giardina, Thierry; Engelke, Udo F. H.; Smet, Joél; Praeter, Claudine M De; Meersschaut, Valerie; Meirleir, Linda J. De; Seneca, Sara; Devreese, Bart; Leroy, Jules; Herga, Sameh; Perrier, Josette; Wevers, Ron A.; Lissens, Willy

doi:10.1016/j.bbrc.2005.10.126

Cited by 53 publications

(45 citation statements)

References 13 publications

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“…Severe neurological involvement has been observed in individual patients with ACY1 deficiency (5,6). However, CSF from only one patient was available for analysis and therefore the observations on this sample are preliminary.…”

Section: Discussionmentioning

confidence: 99%

“…However, not all relevant N-acetylated amino acids can be detected with GC/MS in urine from patients with ACY1 deficiency. Depending on the derivatization procedure used, N-acetylglutamine (5,6), N-acetylasparagine (5,6), N-acetylserine (6) or N-acetylthreonine (6) was missed by GC/MS. NMR spectroscopy does not require extensive treatment of the sample, and, using a combination of one-and two-dimensional NMR spectra, we were able to detect 11 N-acetylated amino acids in urine from ACY1-deficient patients.…”

Section: Discussionmentioning

confidence: 99%

“…N-Acetyl amino acids were determined with GC/MS after liquid extraction from urine and derivatization with N, O-bis(trimethylsilyl)-trifluoroacetamide (BSTFA) (5,13) and/or diazomethane (6,14).…”

Section: Gc/msmentioning

confidence: 99%

“…Aminoacylase 1 deficiency is a novel inborn error of metabolism (OMIM 609924). In two recent papers, clinical and laboratory data from five children with excessive urinary excretion of various N-acetylated amino acids have been reported (5,6). The patients were found to have a deficiency of aminoacylase 1 (ACY1; EC 3.5.1.14), which catalyzes the deacetylation of N-acetylamino acids.…”

Section: Introductionmentioning

confidence: 99%

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NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism

et al. 2008

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Aminoacylase 1 deficiency is a novel inborn error of metabolism. The clinical significance of the deficiency is under discussion, as well as the possible consequences of the defect for brain metabolism and function. This study includes the five originally published cases as well as three novel ones. NMR spectroscopy of urine, serum and cerebrospinal fluid has been used to study these patients. A typical profile with 11 accumulating N-acetylated amino acids was observed in urine from the patients. The concentration of most of the accumulating metabolites is typically 100-500 micromol/mmol creatinine. Two additional minor N-acetylated metabolites remain unidentified. The concentrations of the accumulating metabolites are <20 micromol/L in serum from the patients. Interestingly we found no evidence of an increased concentration of N-acetylated amino acids in the cerebrospinal fluid from one patient. Our data define aminoacylase 1 deficiency at the metabolite level providing a specific urinary profile of accumulating N-acetylated amino acids.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Gc/msmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism

et al. 2008

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“…Patienten werden identifiziert, bei denen ein Enzym eines oft schon lange bekannten Stoffwechselweges aufgrund eines genetisch bedingten Defektes seine Funktion nicht ausüben kann [14][15][16]. In anderen Fällen kann eine bekannte Organoazidopathie erst nach Jahrzehnten einem Gendefekt zugeordnet werden [10].…”

Section: Gc Msunclassified

Organo acidurien/Organic Acidurias

Sass

2011

LaboratoriumsMedizin

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Zusammenfassung Bei der Bestimmung der organischen Säuren im Urin handelt es sich um eine bewährte Untersuchung im Rahmen des selektiven Screenings auf angeborene Stoffwechselstörungen. Unter Anwendung von Gaschromatographie und Massenspektrometrie kann auf diesem Weg zur Diagnose zahlreicher Krankheiten beigetragen werden. Für eine wegweisende Auswertung der Analysendaten ist es essentiell, dass der Anforderer der Untersuchung dem Labor klinische Basisinformationen zur Verfügung stellt. Verbreitung des Wissens über Organoazidopathien und ihre Einbeziehung in die Differentialdiagnostik, insbesondere (pädiatrisch-)neurologischer Krankheitsbilder, ist angesichts der in vielen Fällen vorhandenen Behandlungsmöglichkeiten von besonderer Bedeutung.

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A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo

Lumaka

Race

Peeters

et al. 2018

American J of Med Genetics Pt A

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Pathogenic variants account for 4 to 41% of patients with intellectual disability (ID) or developmental delay (DD). In Sub-Saharan Africa, the prevalence of ID is thought to be higher, but data in Central Africa are limited to some case reports. In addition, clinical descriptions of some syndromes are not available for this population. This study aimed at providing an estimate for the fraction of ID/DD for which an underlying etiological genetic cause may be elucidated and provide insights into their clinical presentation in special institutions in a Central African country. A total of 127 patients (33 females and 94 males, mean age 10.03 ± 4.68 years), were recruited from six institutions across Kinshasa. A clinical diagnosis was achieved in 44 but molecular confirmation was achieved in 21 of the 22 patients with expected genetic defect (95% clinical sensitivity). Identified diseases included Down syndrome (15%), submicroscopic copy number variants (9%), aminoacylase deficiency (0.8%), Partington syndrome in one patient (0.8%) and his similarly affected brother, X-linked syndromic Mental Retardation type 33 (0.8%), and two conditions without clear underlying molecular genetic etiologies (Oculo-Auriculo-Vertebral and Amniotic Bands Sequence). We have shown that genetic etiologies, similar to those reported in Caucasian subjects, are a common etiologic cause of ID in African patients from Africa. We have confirmed the diagnostic utility of clinical characterization prior to genetic testing. Finally, our clinical descriptions provide insights into the presentation of these genetic diseases in African patients.

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Aminoacylase I deficiency: A novel inborn error of metabolism

Cited by 53 publications

References 13 publications

NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism

NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism

Organo acidurien/Organic Acidurias

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo

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