Floris C. Hofstede

Cover Image, Volume 200A, Number 5, May 2026

Elizabeth VanSickle, Sara M. Sarasua, Tracy Lowe, Farrell, Christopher, PhD et autres

The cover image is based on the article Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review by Elizabeth A. VanSickle et al., https://doi.org/10.1002/ajmga.70029 . image

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

Elizabeth VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell et autres

Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase ( SMS ) gene, resulting in decreased or …

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

Elizabeth VanSickle, Sara M. Sarasua, Tracy Brock Lowe, Christopher L. Farrell et autres

Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder-Robinson syndrome results from hemizygous loss-of-function variants in the spermine synthase (SMS) gene, resulting in decreased or complete loss …

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Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

Tassja Kalm, Claudia Schob, Hanna Völler, Thatjana Gardeitchik et autres

Utilizing trio whole-exome sequencing and a gene matching approach, we identified a cohort of 18 male individuals from 17 families with hemizygous variants in KCND1, including two de novo missense variants, three maternally inherited protein-truncating variants, and 12 maternally inherited missense variants. …

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Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports

Elise A. Ferreira, Floris C. Hofstede, Hanneke A. Haijes, Klaske D. Lichtenbelt et autres

Purpose: Molybdenum cofactor deficiency (MoCD) classically presents shortly after birth, with neurological symptoms ascribed to postnatal toxicity of accumulating sulphite. Case reports suggest that cerebral damage associated with MoCD may have a prenatal onset. Methods: A meta-analysis of case reports was performed …

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Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly et autres

Tyrosinemia type 1 (TT1) and phenylketonuria (PKU) are both inborn errors of phenylalanine-tyrosine metabolism. Neurocognitive and behavioral outcomes have always featured in PKU research but received less attention in TT1 research. This study aimed to investigate and compare neurocognitive, behavioral, and social …

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Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome

Elizabeth VanSickle, Julianne Michael, André S. Bachmann, Surender Rajasekaran et autres

Bachmann-Bupp syndrome (BABS) is a rare syndrome caused by gain-of-function variants in the C-terminus of ornithine decarboxylase (ODC coded by the ODC1 gene). BABS is characterized by developmental delay, macrocephaly, macrosomia, and an unusual pattern of non-congenital alopecia. Recent diagnosis of four …

Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome

Elizabeth VanSickle, Julianne Michael, André S. Bachmann, Surender Rajasekaran et autres

Bachmann-Bupp syndrome (BABS) is a rare syndrome caused by gain-of-function variants in the C-terminus of ornithine decarboxylase (ODC coded by the ODC1 gene). BABS is characterized by developmental delay, macrocephaly, macrosomia, and an unusual pattern of non-congenital alopecia. Recent diagnosis of four …

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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Xavier Garcia et autres

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The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

Stephan C. J. Huijbregts, Annet M. Bosch, Quirine A. Simons, Rianne Jahja et autres

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Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study

Yannay Khaikin, Sarah Sidky, José E. Abdenur, Arnaud Anastasi et autres

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Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study

Rianne Jahja, Francjan J. van Spronsen, Leo M. J. de Sonneville, Jaap J. van der Meere et autres

Cognitive and mental health problems in individuals with the inherited metabolic disorder phenylketonuria (PKU) have often been associated with metabolic control and its history. For the present study executive functioning (EF) was assessed in 21 PKU patients during childhood (T1, mean age …

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