The journal of pediatric endocrinology and metabolism: Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation

Ersoy, Melike; Abali, Zehra Yavas; Papatya Cakir, Esra Deniz; Erdin, Soner; Yararbas, Kanay; Abali, Saygin

Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation / Ersoy, Melike (Rights reserved)

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fullscreen: Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation / Ersoy, Melike (Rights reserved)

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Eingeschränkter Zugang mit Nutzungsbeschränkungen: Das Dokument ist in den Räumen der Zentral- und Landesbibliothek mit dem "Virtuellen Lesesaal der Landesbibliothek" auf allen Internet-Arbeitsplätzen zugreifbar, darf jedoch nicht kopiert, versendet oder in einem Umfang von mehr als 10% ausgedruckt werden. Weitere Informationen.

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Periodical

Title:: The journal of pediatric endocrinology and metabolism

Publication:: Berlin [u.a.]: de Gruyter

Scope:: Online-Ressource

ISSN:: 2191-0251

ZDB-ID:: 2583847-7

VÖBB-Katalog:: 15261592

Keywords:: Zeitschrift

Classification:: Medizin

Collection:: Medizin

Copyright:: Rights reserved

Accessibility:: Eingeschränkter Zugang mit Nutzungsbeschränkungen

Article

Author:: Ersoy, Melike; Abali, Zehra Yavas; Papatya Cakir, Esra Deniz; Erdin, Soner; Yararbas, Kanay; Abali, Saygin

Title:: Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation

Publication:: Berlin [u.a.]: de Gruyter, 2025

Language:: English

Information:: Objectives: Combined malonic and methylmalonic aciduria (CMAMMA) is an inherited metabolic disorder caused by ACSF3 variants leading to malonyl-CoA synthetase (MCS) deficiency. Despite its well-defined genetic basis, the clinical spectrum of CMAMMA remains highly variable. Case presentation: This study reports six patients from three unrelated families, aged 12 days to 30 years, presenting with heterogeneous clinical manifestations. Exome sequencing (ES) identified a homozygous ACSF3 variant, c.1470G>C [p.(Glu490Asp)], in five patients, and a novel variant, c.1145T>C [p.(Leu382Pro)], in one patient. Notably, in each family’s index case, ES revealed additional pathogenic variants consistent with a dual molecular diagnosis: a homozygous CHRNG variant in one patient; compound heterozygous BTD variants in two siblings, confirming biotinidase deficiency; and a novel CDK10 frameshift variant, c.520_521del [p.(Lys174Glyfs*34)], in another patient. Half of the patients with CMAMMA demonstrated mild to moderate developmental delay. Notably, the sibling with both CMAMMA and biotinidase deficiency exhibited developmental delay, whereas the sibling with isolated CMAMMA had normal development. Symptomatic individuals showed clinical improvement following dietary protein restriction and carnitine supplementation. Conclusions: These findings highlight that CMAMMA may cause developmental delay, emphasizing the importance of early diagnosis and treatment. Furthermore, in patients with atypical features, high-throughput sequencing technologies offer a comprehensive approach to identifying additional pathogenic variants in genes beyond ACSF3.

Scope:: Online-Ressource

Note:: Kein Open Access; Archivierung/Langzeitarchivierung gewährleistet

Keywords:: combined malonic and methylmalonic aciduria ; ACSF3 ; biotinidase deficiency ; BTD ; CHRNG ; CDK10

Classification:: Medizin

URN:: urn:nbn:de:101:1-2512030307584.478940316209

Collection:: Medizin

Copyright:: Rights reserved

Accessibility:: Eingeschränkter Zugang mit Nutzungsbeschränkungen

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