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Infantile liver failure

MedGen UID:
1813021
•Concept ID:
C5681094
•
Disease or Syndrome
Synonyms: Fever-associated acute infantile liver failure syndrome; Infantile liver failure syndrome
SNOMED CT: Fever-associated acute infantile liver failure syndrome (1208726006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Related genes: LARS1, MARS1
 
Monarch Initiative: MONDO:0000023
OMIM® Phenotypic series: PS615438
Orphanet: ORPHA464724

Definition

A rare genetic parenchymatous liver disease with characteristics of infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment. [from SNOMEDCT_US]

Professional guidelines

PubMed

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D
Genet Med 2020 Mar;22(3):610-621. Epub 2019 Nov 25 doi: 10.1038/s41436-019-0698-4. PMID: 31761904

Recent clinical studies

Etiology

Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.
Zheng Y, Guo H, Chen L, Cheng W, Yan K, Zhang Z, Li M, Jin Y, Hu G, Wang C, Zhou C, Zhou W, Jia Z, Zheng B, Liu Z
Hepatol Int 2024 Apr;18(2):661-672. Epub 2023 Jun 14 doi: 10.1007/s12072-023-10553-6. PMID: 37314652
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S
Genet Med 2023 Jun;25(6):100314. Epub 2022 Oct 29 doi: 10.1016/j.gim.2022.09.015. PMID: 36305855
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.
Murali CN, Soler-Alfonso C, Loomes KM, Shah AA, Monteil D, Padilla CD, Scaglia F, Ganetzky R
Mol Genet Metab 2021 Feb;132(2):146-153. Epub 2021 Jan 14 doi: 10.1016/j.ymgme.2021.01.005. PMID: 33485800Free PMC Article
Liver Failure Among Young Saudi Infants: Etiology, Clinical Presentation, and Outcome.
Lone KS, AlSaleem B, Asery A, Bashir MS, Al-Hussaini A
J Pediatr Gastroenterol Nutr 2020 Feb;70(2):e26-e32. doi: 10.1097/MPG.0000000000002554. PMID: 31978013
Acute infantile liver failure due to mutations in the TRMU gene.
Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, Karicheva O, Mandel H, Ofek N, Segel R, Marom D, Rötig A, Tarassov I, Elpeleg O
Am J Hum Genet 2009 Sep;85(3):401-7. doi: 10.1016/j.ajhg.2009.08.004. PMID: 19732863Free PMC Article

Diagnosis

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Hammann N, Lenz D, Baric I, Crushell E, Vici CD, Distelmaier F, Feillet F, Freisinger P, Hempel M, Khoreva AL, Laass MW, Lacassie Y, Lainka E, Larson-Nath C, Li Z, Lipiński P, Lurz E, Mégarbané A, Nobre S, Olivieri G, Peters B, Prontera P, Schlieben LD, Seroogy CM, Sobacchi C, Suzuki S, Tran C, Vockley J, Wang JS, Wagner M, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Staufner C
Mol Genet Metab 2024 Mar;141(3):108118. Epub 2024 Jan 11 doi: 10.1016/j.ymgme.2023.108118. PMID: 38244286
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.
Murali CN, Soler-Alfonso C, Loomes KM, Shah AA, Monteil D, Padilla CD, Scaglia F, Ganetzky R
Mol Genet Metab 2021 Feb;132(2):146-153. Epub 2021 Jan 14 doi: 10.1016/j.ymgme.2021.01.005. PMID: 33485800Free PMC Article
Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report.
Li W, Zhu Y, Guo Q, Wan C
BMC Gastroenterol 2020 Sep 21;20(1):308. doi: 10.1186/s12876-020-01451-4. PMID: 32957979Free PMC Article
Liver Failure Among Young Saudi Infants: Etiology, Clinical Presentation, and Outcome.
Lone KS, AlSaleem B, Asery A, Bashir MS, Al-Hussaini A
J Pediatr Gastroenterol Nutr 2020 Feb;70(2):e26-e32. doi: 10.1097/MPG.0000000000002554. PMID: 31978013
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.
Casey JP, Slattery S, Cotter M, Monavari AA, Knerr I, Hughes J, Treacy EP, Devaney D, McDermott M, Laffan E, Wong D, Lynch SA, Bourke B, Crushell E
J Inherit Metab Dis 2015 Nov;38(6):1085-92. Epub 2015 Apr 28 doi: 10.1007/s10545-015-9849-1. PMID: 25917789

Therapy

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S
Genet Med 2023 Jun;25(6):100314. Epub 2022 Oct 29 doi: 10.1016/j.gim.2022.09.015. PMID: 36305855
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.
Murali CN, Soler-Alfonso C, Loomes KM, Shah AA, Monteil D, Padilla CD, Scaglia F, Ganetzky R
Mol Genet Metab 2021 Feb;132(2):146-153. Epub 2021 Jan 14 doi: 10.1016/j.ymgme.2021.01.005. PMID: 33485800Free PMC Article
Pitfalls in the Diagnosis of Hereditary Fructose Intolerance.
Kim AY, Hughes JJ, Pipitone Dempsey A, Sondergaard Schatz K, Wang T, Gunay-Aygun M
Pediatrics 2020 Aug;146(2) doi: 10.1542/peds.2019-3324. PMID: 32709737
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D
Genet Med 2020 Mar;22(3):610-621. Epub 2019 Nov 25 doi: 10.1038/s41436-019-0698-4. PMID: 31761904

Prognosis

Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1.
Li SY, Feng JY, Li ZD, Liu T
Orphanet J Rare Dis 2024 Jun 6;19(1):225. doi: 10.1186/s13023-024-03229-3. PMID: 38844943Free PMC Article
MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants.
Samanta A, Srivastava A, Mandal K, Sarma MS, Poddar U
Indian J Gastroenterol 2023 Aug;42(4):569-574. Epub 2023 Feb 8 doi: 10.1007/s12664-022-01281-0. PMID: 36753038
Liver Failure Among Young Saudi Infants: Etiology, Clinical Presentation, and Outcome.
Lone KS, AlSaleem B, Asery A, Bashir MS, Al-Hussaini A
J Pediatr Gastroenterol Nutr 2020 Feb;70(2):e26-e32. doi: 10.1097/MPG.0000000000002554. PMID: 31978013
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D
Genet Med 2020 Mar;22(3):610-621. Epub 2019 Nov 25 doi: 10.1038/s41436-019-0698-4. PMID: 31761904
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.
Casey JP, Slattery S, Cotter M, Monavari AA, Knerr I, Hughes J, Treacy EP, Devaney D, McDermott M, Laffan E, Wong D, Lynch SA, Bourke B, Crushell E
J Inherit Metab Dis 2015 Nov;38(6):1085-92. Epub 2015 Apr 28 doi: 10.1007/s10545-015-9849-1. PMID: 25917789

Clinical prediction guides

Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1.
Li SY, Feng JY, Li ZD, Liu T
Orphanet J Rare Dis 2024 Jun 6;19(1):225. doi: 10.1186/s13023-024-03229-3. PMID: 38844943Free PMC Article
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S
Genet Med 2023 Jun;25(6):100314. Epub 2022 Oct 29 doi: 10.1016/j.gim.2022.09.015. PMID: 36305855
Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.
Cotrina-Vinagre FJ, Rodríguez-García ME, Martín-Hernández E, Durán-Aparicio C, Merino-López A, Medina-Benítez E, Martínez-Azorín F
Mol Genet Metab 2021 Jun;133(2):201-210. Epub 2021 Feb 27 doi: 10.1016/j.ymgme.2021.02.007. PMID: 33707149
Liver Failure Among Young Saudi Infants: Etiology, Clinical Presentation, and Outcome.
Lone KS, AlSaleem B, Asery A, Bashir MS, Al-Hussaini A
J Pediatr Gastroenterol Nutr 2020 Feb;70(2):e26-e32. doi: 10.1097/MPG.0000000000002554. PMID: 31978013
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D
Genet Med 2020 Mar;22(3):610-621. Epub 2019 Nov 25 doi: 10.1038/s41436-019-0698-4. PMID: 31761904

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