Balasubramaniam S, Lewis B, Mock DM et al (2017) Leigh-Like syndrome due to homoplasmic m.8993T > G variant with hypocitrullinemia and unusual biochemical features suggestive of multiple carboxylase deficiency (MCD). JIMD Rep 33:99–107. https://doi.org/10.1007/8904_2016_559

Article  PubMed  Google Scholar 

Boyer M, Sowa M, Di Meo I et al (2018) Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy. Mol Genet Metab 124:57–63. https://doi.org/10.1016/j.ymgme.2018.02.008

Article  CAS  PubMed  Google Scholar 

Carrozzo R, Verrigni D, Rasmussen M et al (2016) Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. J Inherit Metab Dis 39:243–252. https://doi.org/10.1007/s10545-015-9894-9

Article  CAS  PubMed  Google Scholar 

Debray F-G, Lambert M, Allard P, Mitchell GA (2010) Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome. J Child Neurol 25:1000–1002. https://doi.org/10.1177/0883073809351983

Article  PubMed  Google Scholar 

Elliott KR, Tipton KF (1974) Product inhibition studies on bovine liver carbamoyl phosphate synthetase. Biochem J 141:817–824. https://doi.org/10.1042/bj1410817

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ganetzky RD, Stendel C, McCormick EM et al (2019) MT-ATP6 mitochondrial disease variants: phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases. Hum Mutat 40:499–515. https://doi.org/10.1002/humu.23723

Article  CAS  PubMed  Google Scholar 

Henriques M, Diogo L, Garcia P et al (2012) Mitochondrial DNA 8993T > G mutation in a child with ornithine transcarbamylase deficiency and Leigh syndrome: an unexpected association. J Child Neurol 27:1059–1061. https://doi.org/10.1177/0883073811431015

Article  PubMed  Google Scholar 

Holt IJ, Harding AE, Petty RK et al (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 46:428–433. https://doi.org/10.1016/0378-1119(90)90319-M

Article  CAS  PubMed  PubMed Central  Google Scholar 

Larson AA, Balasubramaniam S, Christodoulou J et al (2019) Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6. Mitochondrion 44:58–64. https://doi.org/10.1016/j.mito.2018.01.001

Article  CAS  PubMed  Google Scholar 

Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S et al (2017) Progressive deafness-dystonia due to SERAC1 mutations: a study of 67 cases. Ann Neurol 82:1004–1015. https://doi.org/10.1002/ana.25110

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mori M, Mytinger JR, Martin LC et al (2014) m.8993T > G-Associated Leigh syndrome with hypocitrullinemia on newborn screening. JIMD Rep 17:47–51. https://doi.org/10.1007/8904_2014_332

Article  PubMed  PubMed Central  Google Scholar 

Na JH, Lee YM (2022) Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome. Acta Neurol Scand 145:414–422. https://doi.org/10.1111/ane.13566

Article  CAS  PubMed  Google Scholar 

Ng YS, Martikainen MH, Gorman GS et al (2019) Pathogenic variants in MT-ATP6: a united Kingdom-based mitochondrial disease cohort study. Ann Neurol 86:310–315. https://doi.org/10.1002/ana.25525

Article  CAS  PubMed  PubMed Central  Google Scholar 

Parfait B, de Lonlay P, von Kleist-Retzow JC et al (1999) The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome MtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia. Eur J Pediatr 158:55–58. https://doi.org/10.1007/s004310051009

Article  CAS  PubMed  Google Scholar 

Peretz RH, Ah Mew N, Vernon HJ, Ganetzky RD (2021) Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening. Mol Genet Metab 134:37–42. https://doi.org/10.1016/j.ymgme.2021.06.007

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rabier D, Diry C, Rotig A et al (1998) Persistent hypocitrullinaemia as a marker for MtDNA NARP T 8993 G mutation? J Inherit Metab Dis 21:216–219. https://doi.org/10.1023/a:1005391300203

Article  CAS  PubMed  Google Scholar 

Rabier D, Kamoun P (1995) Metabolism of citrulline in man. Amino Acids 9:299–316. https://doi.org/10.1007/bf00807268

Article  CAS  PubMed  Google Scholar 

Saunders C, Smith L, Wibrand F et al (2015) CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet 96:258–265. https://doi.org/10.1016/j.ajhg.2014.12.020

Article  CAS  PubMed  PubMed Central  Google Scholar 

Stendel C, Neuhofer C, Floride E et al (2020) Delineating MT-ATP6-associated disease: from isolated neuropathy to early onset neurodegeneration. Neurol Genet 6:e393. https://doi.org/10.1212/nxg.0000000000000393

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tise CG, Verscaj CP, Mendelsohn BA et al (2023) MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype. Am J Med Genet A 191:1492–1501. https://doi.org/10.1002/ajmg.a.63159

Article  CAS  PubMed  Google Scholar 

van Karnebeek CD, Sly WS, Ross CJ et al (2014) Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. Am J Hum Genet 94:453–461. https://doi.org/10.1016/j.ajhg.2014.01.006

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang J, Liu Z, Xu M et al (2021) Cinical, metabolic, and genetic analysis and follow-up of eight patients with HIBCH mutations presenting with Leigh/Leigh-Like syndrome. Front Pharmacol 12:605803. https://doi.org/10.3389/fphar.2021.605803

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wongkittichote P, Ganetzky RD, Demczko MM et al (2023) Low plasma citrulline guiding the diagnosis of a mitochondrial disorder. Clin Chem 69:661–664. https://doi.org/10.1093/clinchem/hvad039

Article  CAS  PubMed  Google Scholar 

Yang H, Yu D (2020) Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature. BMC Pediatr 20:50. https://doi.org/10.1186/s12887-020-1947-z

Article  CAS  PubMed  PubMed Central  Google Scholar