Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature

Fay, Charlotte La; Hoebeke, Célia; Juzaud, Marine; Spraul, Anne; Heux, Pauline; Dubus, Jean‐Christophe; Hadchouel, Alice; Fabre, Alexandre

doi:10.1016/j.ejmg.2021.104334

Cited by 12 publications

(5 citation statements)

References 15 publications

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“…Etiologies can include increased caloric requirement secondary to increased work of breathing, appetite suppression, and/or due to nausea, vomiting, and malabsorption. In MARS‐associated PAP, initial presentation can include feeding difficulties, FTT, hypoxia, tachypnea, and signs and symptoms of liver dysfunction, including acute liver failure, coagulopathy, and jaundice 12 . This patient's presentation included some extra‐pulmonary manifestations of disease, including feeding difficulties, FTT, and jaundice.…”

Section: Discussionmentioning

confidence: 98%

“…In MARS-associated PAP, initial presentation can include feeding difficulties, FTT, hypoxia, tachypnea, and signs and symptoms of liver dysfunction, including acute liver failure, coagulopathy, and jaundice. 12 This patient's presentation included some extra-pulmonary manifestations of disease, including feeding difficulties, FTT, and jaundice. Physical examination findings are usually nonspecific, but can include tachypnea, crackles, and clubbing.…”

Section: Challenge Point 3bmentioning

confidence: 96%

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When lungs and weights tell different stories

Godse,

Brumer,

Kizilirmak

et al. 2024

Pediatric Pulmonology

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Abnormalities in infant chest radiography can represent wide differential diagnoses depending on the age of presentation, gestational age, and clinical scenario. 1 Often, patients will present with signs of respiratory distress or hypoxemia. However, in this case, we describe a previously healthy 6-month-old infant presenting with failure to thrive (FTT), emesis, jaundice, and an abnormal chest radiograph (CXR) without overt signs of respiratory distress. | CASE PRESENTATIONThe pulmonology service was consulted to evaluate abnormal radiographic findings in a 6-month-old female admitted for progressive weight loss.

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Section: Discussionmentioning

confidence: 98%

Section: Challenge Point 3bmentioning

confidence: 96%

When lungs and weights tell different stories

Godse,

Brumer,

Kizilirmak

et al. 2024

Pediatric Pulmonology

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show abstract

“…Patients are also affected by intrauterine growth retardation, anaemia, neurodevelopmental delay, seizures and hypotonia and if they survive episodes of hepatic dysfunction may become less severe with age 139 . By contrast, other ARSs are reported to cause cholestatic and steatotic liver disease YARS1 , 140 MARS1 , 141 FARS1 142 encoding tyrosyl, methionyl and phenylalanyl synthetases, respectively.…”

Section: Arss Deficienciesmentioning

confidence: 99%

Genetic aetiologies of acute liver failure

Hegarty,

Thompson

2024

J of Inher Metab Disea

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Acute liver failure (ALF) is a rare, rapidly evolving, clinical syndrome with devastating consequences where definitive treatment is by emergency liver transplantation. Establishing a diagnosis can be challenging and, historically, the cause of ALF was unidentified in up to half of children. However, recent technological and clinical advances in genomic medicine have led to an increasing proportion being diagnosed with monogenic aetiologies of ALF. The conditions encountered include a diverse group of inherited metabolic disorders each with prognostic and treatment implications. Often these disorders are clinically indistinguishable and may even mimic disorders of immune regulation or red cell disorders. Rapid genomic sequencing for children with ALF is, therefore, a key component in the diagnostic work up today. This review focuses on the monogenic aetiologies of ALF.

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“…With increasing prevalence of fatty liver in children, there is a risk that children are falsely labelled as MAFLD when, in fact, the underlying reason for the fatty liver is an IMD. Furthermore, the list of such IMDs are increasing, including congenital disorders of glycosylation 6 and aminoacyl transfer RNA synthetase deficiencies 7 ( Figure 1 ). Clues that may point towards an underlying IMD include younger age (<5 years) and lean body habitus 4 ( Figure 2 ).…”

Section: Nafld To Mafld (Pefld Type 2) In Childrenmentioning

confidence: 99%

Fatty liver disease in children (MAFLD/PeFLD Type 2): unique classification considerations and challenges

Hegarty

Kyrana

Fitzpatrick

et al. 2023

Therapeutic Advances in Endocrinology

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In children, fatty liver disease is a group of disorders that often overlaps with inherited metabolic disorders (IMDs), which requires prompt diagnosis and specific management. Metabolic dysfunction–associated fatty liver disease (MAFLD) or, formerly, non-alcoholic fatty liver disease (NAFLD) is the hepatic component of a multisystemic disease that requires a positive criteria in metabolic dysfunction for diagnosis. However, in children, the diagnosis of MAFLD is one of the exclusions of an IMD [paediatric fatty liver disease (PeFLD) type 1] including the possibility that an IMD can be identified in the future following investigations that may be negative at the time. Therefore, while children with fatty liver with metabolic dysfunction could be classified as MAFLD (PeFLD type 2) and managed that way, those who do not fulfil the criteria for metabolic dysfunction should be considered separately bearing in mind the possibility of identifying a yet undiagnosed IMD (PeFLD type 3). This concept is ever more important in a world where MAFLD is the most common cause of liver disease in children and adolescents in whom about 7% are affected. The disease is only partially understood, and awareness is still lacking outside hepatology and gastroenterology. Despite its increasing pervasiveness, the management is far from a one-size-fits-all. Increasing complexities around the genetic, epigenetic, non-invasive modalities of assessment, psychosocial impacts, therapeutics, and natural history of the disease have meant that an individualised approach is required. This is where the challenge lies so that children with fatty liver are considered on their own merits. The purpose of this review is to give a clinical perspective of fatty liver disease in children with relevance to metabolic dysfunction.

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Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature

Cited by 12 publications

References 15 publications

When lungs and weights tell different stories

When lungs and weights tell different stories

Genetic aetiologies of acute liver failure

Fatty liver disease in children (MAFLD/PeFLD Type 2): unique classification considerations and challenges

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