PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review [PDF]
BMC Medical GenomicsBackground Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive disorder. Riboflavin-responsive MADD (RR-MADD) represents a treatable subtype, though its molecular mechanisms are incompletely characterized.
Dong-Fang Lin +3 more
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Frontiers in Neurology, 2023 In this case study, we report the case of a 13-year-old girl with citrullinemia type 1 (MIM #215700), an autosomal recessive inherited disorder of the urea cycle, which was confirmed by the identification of a homozygous pathogenic variant in the ...
Audrey Pontrucher +7 more
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Asymptomatic ASS1 carriers with high blood citrulline levels
Molecular Genetics & Genomic Medicine, 2022 Introduction Citrullinemia Type 1 (CTLN1) is an autosomal recessive disorder caused by variants in the ASS1 gene. This study intends to clarify the etiology of false positives in newborn screening for citrullinemia. Method Newborns who had elevated dried‐
Hui‐An Chen +8 more
doaj +1 more source
A Case of Acrodermatitis Dysmetabolica in a Child Affected by Citrullinemia Type I: When Early Diagnosis and Timely Treatment Are Not Enough [PDF]
, 2023 An infant with a prenatal diagnosis of citrullinemia, who started standard treatment at birth (L-arginine; sodium benzoate and a personalized diet characterized by a low protein intake and supplementation of essential nutrients and amino acids ...
Valeria Di Natale +15 more
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Pregnancy-related type citrullinemia type 1: A case report and literature review
Placenta and Reproductive Medicine, 2023 Citrullinemia type 1 (CTLN1) is a rare autosomal recessive urea cycle disorder, without functional argininosuccinate synthase 1 (ASS1), mostly occurring in newborns and infants, but it has been reported as having an adult-onset in carriers of the pathogenic gene, and even more rarely, the onset of the disease is pregnancy related.
Jiapo Li +5 more
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First manifestation of citrullinemia type I as Sandifer syndrome [PDF]
, 2017 We report an eleven-month-old infant girl who presented as Sandifer syndrome clinically but was later diagnosed with citrullinemia type I. Metabolic evaluation and molecular analysis confirmed the correct diagnosis.
Kilic, Mustafa +17 more
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Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil [PDF]
Genetics and Molecular Biology, 2020 Citrullinemia type 1 (CTLNI), long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), and mut0 methylmalonic acidemia (mut0 MMA) are inborn errors of metabolism (IEMs) associated with sudden unexpected death in infancy (SUDI).
Dévora N. Randon +8 more
doaj +1 more source
, 2023 Citrullinemia type I is a rare autosomal-recessive disorder caused by deficiency of argininosuccinate synthetase (ASS1). The clinical presentation includes the acute neonatal form, characterized by ammonia and citrulline accumulation in blood, which may ...
Laura Moretti +8 more
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Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I [PDF]
, 2010 Acute liver failure may be caused by a variety of disorders including inborn errors of metabolism. In those cases, rapid metabolic investigations and adequate treatment may avoid the need for liver transplantation.
Vries, M.M.C. (Maaike) de +24 more
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Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
JIMD Reports, 2022 We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth.
Álvaro Martín‐Rivada +19 more
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