Saskia B. Wortmann
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View article: Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability Open
Protein arginine methyltransferase 9 (PRMT9) is part of the PRMT family, and it is suspected to function in pathways relevant to neurodevelopment. It is thought to participate in alternative splicing through interactions with the splicing …
View article: The genotypic and phenotypic landscape of <i>PDHA1</i> -related pyruvate dehydrogenase complex deficiency
The genotypic and phenotypic landscape of <i>PDHA1</i> -related pyruvate dehydrogenase complex deficiency Open
This retrospective study on X-linked PDHA1-related pyruvate dehydrogenase complex (PDHc) deficiency combined a systematic literature review with a multicenter survey exploring genotypes, phenotypes, and survival. Data from 891 individuals …
View article: TXNIP mediates LAT1/SLC7A5 endocytosis to limit amino acid uptake in cells entering quiescence
TXNIP mediates LAT1/SLC7A5 endocytosis to limit amino acid uptake in cells entering quiescence Open
Entry into and exit from cellular quiescence require dynamic adjustments in nutrient acquisition, yet the mechanisms by which quiescent cells downregulate amino acid (AA) transport remain poorly understood. Here we show that cells entering…
View article: Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study Open
Congenital HL represents a ubiquitous symptom in severe types of MEGD(H)EL syndrome, being absent in late onset milder forms. Regularly, severely affected MEGD(H)EL patients do not achieve spoken language, even with CI. Hence, hearing reha…
View article: Expanding the Genetic and Phenotypic Spectrum of <scp> <i>POLRMT</i> </scp> ‐Related Mitochondrial Disease
Expanding the Genetic and Phenotypic Spectrum of <span> <i>POLRMT</i> </span> ‐Related Mitochondrial Disease Open
Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity. Genomic testing is increasingly used as the first step in the diagnostic pathway for mitochondrial diseases. We used next…
View article: TXNIP is a critical regulator of human cardiometabolic health
TXNIP is a critical regulator of human cardiometabolic health Open
Thioredoxin interacting protein, encoded by TXNIP , is a key mediator of glucose and lipid metabolism in preclinical models. However, its role in human metabolism is not well understood. We have characterized a cohort of individuals with b…
View article: Dependence of mitochondrial calcium signalling and dynamics on the disaggregase, CLPB
Dependence of mitochondrial calcium signalling and dynamics on the disaggregase, CLPB Open
View article: Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges
Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges Open
Glycogen storage disease (GSD) type Ia (glucose-6-phosphatase deficiency) and Ib (glucose-6-phosphate transporter deficiency) are both clinically characterized by fasting hypoglycaemia and hepatomegaly. Chronic kidney disease (CKD) with lo…
View article: From Genotype to Outcome: Zygosity-Specific Insights in 63 Cases of CLPB-Related Mitochondrial Disease
From Genotype to Outcome: Zygosity-Specific Insights in 63 Cases of CLPB-Related Mitochondrial Disease Open
View article: Mitopil: Evaluating the Use of Contraceptives in Women with Mitochondrial Disease
Mitopil: Evaluating the Use of Contraceptives in Women with Mitochondrial Disease Open
View article: Mitochondrial disorder diagnosis and management– what the pediatric neurologist wants to know
Mitochondrial disorder diagnosis and management– what the pediatric neurologist wants to know Open
Childhood-onset mitochondrial disorders are rare genetic diseases that often manifest with neurological impairment due to altered mitochondrial structure or function. To date, pathogenic variants in 373 genes across the nuclear and mitocho…
View article: Ketogenic diet in adult patients with mitochondrial myopathy
Ketogenic diet in adult patients with mitochondrial myopathy Open
View article: TXNIP mediates LAT1/SLC7A5 endocytosis to reduce amino acid uptake in cells entering quiescence
TXNIP mediates LAT1/SLC7A5 endocytosis to reduce amino acid uptake in cells entering quiescence Open
Entry and exit from cellular quiescence require dynamic adjustments in nutrient acquisition, yet the mechanisms by which quiescent cells downregulate amino acid (AA) transport remain poorly understood. Here, we demonstrate that cells enter…
View article: Loss‐of‐Function Variants in <scp><i>CUL3</i></scp> Cause a Syndromic Neurodevelopmental Disorder
Loss‐of‐Function Variants in <span><i>CUL3</i></span> Cause a Syndromic Neurodevelopmental Disorder Open
Objective De novo variants in cullin‐3 ubiquitin ligase ( CUL3 ) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here, we aimed to collect sporadic cases carrying …
View article: The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear Open
Vitamin B12 (B12) deficiency (B12D) can have detrimental effects on early growth and development. The Austrian newborn screening (NBS) program targets inborn errors of cobalamin metabolism and also detects B12D. Of 59 included neonates wit…
View article: Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children
Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children Open
Obtaining a genetic diagnosis of a primary mitochondrial disease (PMD) is often framed as a diagnostic odyssey. Yet, even after receiving a diagnosis, parents of affected children experience ongoing therapeutic and prognostic uncertainty a…
View article: Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b Open
View article: Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children
Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children Open
Obtaining a genetic diagnosis of a primary mitochondrial disease (PMD) is often framed as a diagnostic odyssey. Yet, even after receiving a diagnosis, parents of affected children experience ongoing therapeutic and prognostic uncertainty, …
View article: Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic <i>HK1</i> Variants
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic <i>HK1</i> Variants Open
Genotype-phenotype correlations appear to exist for HK1 variants and can aid in counseling. A CSF biomarker profile with low glucose, low CSF/blood glucose, and high CSF lactate may point toward monoallelic HK1 variants causi…
View article: Digenic Leigh syndrome on the background of the m.11778G&gt;A Leber hereditary optic neuropathy variant
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant Open
Leigh syndrome spectrum (LSS) is a primary mitochondrial disorder defined neuropathologically by a subacute necrotizing encephalomyelopathy and characterized by bilateral basal ganglia and/or brainstem lesions. LSS is associated with varia…
View article: Biallelic variants in Plexin B2 (<i>PLXNB2</i>) cause amelogenesis imperfecta, hearing loss and intellectual disability
Biallelic variants in Plexin B2 (<i>PLXNB2</i>) cause amelogenesis imperfecta, hearing loss and intellectual disability Open
Background Plexins are large transmembrane receptors for the semaphorin family of signalling proteins. Semaphorin-plexin signalling controls cellular interactions that are critical during development as well as in adult life stages. Nine p…
View article: New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center Open
Newborn screening (NBS) for hepatorenal tyrosinemia type I (HT1) based on a determination of succinylacetone is performed in countries worldwide. Recently, biallelic pathogenic variants in GSTZ1 underlying maleylacetoacetate isomerase (MAA…
View article: Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop Open
Glycogen storage disease type Ib (GSD Ib, biallelic variants in SLC37A4) is a rare disorder of glycogen metabolism complicated by neutropenia/neutrophil dysfunction. Since 2019, the SGLT2-inhibitor empagliflozin has provided a mechanism-ba…
View article: Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment Open
Off‐label repurposing of empagliflozin allows pathomechanism‐based treatment of neutropenia/neutrophil‐dysfunction in glycogen storage disease type Ib (GSDIb). From a value‐based healthcare (VBHC) perspective, we here retrospectively studi…
View article: Feasibility, Safety, and Efficacy of a Ketogenic Diet in Patients with Mitochondrial Myopathy
Feasibility, Safety, and Efficacy of a Ketogenic Diet in Patients with Mitochondrial Myopathy Open
View article: Genetic landscape of pediatric acute liver failure of indeterminate origin
Genetic landscape of pediatric acute liver failure of indeterminate origin Open
Background and Aims: Pediatric acute liver failure (PALF) is a life-threatening condition. In Europe, the main causes are viral infections (12%–16%) and inherited metabolic diseases (14%–28%). Yet, in up to 50% of cases the underlying etio…
View article: PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening
PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening Open
Two siblings showed increased galactose and galactose-related metabolites in neonatal screening. Diagnostic workup did not reveal abnormalities in any of the known disease-causing enzymes involved in galactose metabolism. Using whole-exome…
View article: Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey Open
View article: Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome
Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome Open
Background SERAC1 related MEGD(H)EL syndrome is a rare but regularly severely disabling and progressive inborn metabolic disease characterized by 3-methylglutaconic aciduria, dystonia and deafness, encephalopathy, (hepatopathy) and a Leigh…
View article: Beyond genetics: Deciphering the impact of missense variants in <scp>CAD</scp> deficiency
Beyond genetics: Deciphering the impact of missense variants in <span>CAD</span> deficiency Open
CAD is a large, 2225 amino acid multienzymatic protein required for de novo pyrimidine biosynthesis. Pathological CAD variants cause a developmental and epileptic encephalopathy which is highly responsive to uridine supplements. CAD defici…