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Genişletilmiş Yenidoğan Programı Olmayan Bir Ülkede Geç Başlangıçlı Metilmalonik Asidemi Olgusu

Yıl 2023, Cilt: 76 Sayı: 3, 287 - 290, 24.10.2023

Gökcan Öztürk

Öz

Metilmalonik asidemi (MMA), metilmalonil-CoA mutazının tam (mut0) veya kısmi (mut-) eksikliğinden, kofaktörün sentezindeki veya taşınmasındaki
kusurlardan veya metilmalonil-CoA epimeraz eksikliği nedeniyle ortaya çıkan otozomal resesif geçişli metabolik bir hastalıktır. MMA’lı hastaların
çoğu, yaşamın ilk birkaç günü veya haftasında emzirmeden sonra uyuşukluk, beslenme sorunları, taşipne ve hipotoni gibi belirti ve semptomlar
gösterir. Tedavi edilmeyen olgularda hayatı tehdit eden asidoz, hiperamonyemik ensefalopati, koma ve ölüm görülebilir. Bu çalışmada acil servise
1 yaşından sonra atipik klinik bulgularla başvuran ve hızla koma bulguları gelişen bir MMA olgusunun ayırıcı tanı ve tedavisinde kalıtsal metabolik
hastalıklardan erken şüphelenilmesinin önemi vurgulanmıştır. Metilmalonik asidemi sıklıkla yaşamın ilk günlerinde ortaya çıksa da, özellikle kalıtsal
metabolik bozukluk riski yüksek, atipik klinik ve laboratuvar bulguları olan yaşı daha büyük hastalarda metabolik asidoz ayırıcı tanısında akılda
tutulmalıdır.

Anahtar Kelimeler

Metilmalonik Asidemi Organik Asidemi Ketoasidoz

Etik Beyan

-

Destekleyen Kurum

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Proje Numarası

-

Teşekkür

-

Kaynakça

  • 1. Almási T, Guey LT, Lukacs C, et al. Systematic literature review and metaanalysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency. Orphanet J Rare Dis. 2019;14:1-10.
  • 2. Haijes HA, Jans JJM, Tas SY, et al. Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications. J Inherit Metab Dis. 2019;42:730-744
  • 3. Held PK, Singh E, Schwoerer JS. Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations. Int J Neonatal Screen. 2022;8:13.
  • 4. Fraser JL, Venditti CP. Methylmalonic and propionic acidemias: Clinical management update. Curr Opin Pediatr. 2016;28:682-693. 5. Kang L, Liu Y, Shen M, et al. A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia. J Inherit Metab Dis. 2020;43:409-423.
  • 6. Hacettepe Üniversitesi Nüfus Etütleri Enstitüsü, Türkiye Nüfus ve Sağlık Araştırması, Bölüm 4: Evlilik sf:47, 2019, Ankara.
  • 7. Eminoglu FT, Yekeduz Koc M, Dogulu N, et al. Inherited metabolic disorders in the neonatal intensive care unit: Red flags to look out for. Pediatr Int.2022;64:e14953.
  • 8. Baumgartner MR, Hörster F, Dionisi-Vici C, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014;9:1-36.
  • 9. Reddy N, Calloni SF, Vernon HJ. Neuroimaging Findings of Organic Acidemias and Aminoacidopathies. Radiographics. 2018;38:912-931.
  • 10. Zhang C, Wang X, Hao S, et al. Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia. Sci Rep. 2020;10:1-7.
  • 11. Şeker Yılmaz B, Kor D, Bulut FD, et al. Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia. Turkish J Med Sci. 2021;51:1220-1228.
  • 12. Heringer J, Valayannopoulos V, Lund AM, et al. Impact of age at onset and newborn screening on outcome in organic acidurias. J Inherit Metab Dis. 2016;39:341-353.
  • 13. Saini N, Malhotra A, Chhabra S, et al. Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants. Indian J Crit Care Med. 2015;19:183-185.
  • 14. Yu Y, Shuai R, Liang L, et al. Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study. Mol Genet Genomic Med. 2021;9:1-19.
  • 15. Hörster F, Tuncel AT, Gleich F, et al. Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut. J Inherit Metab Dis. 2020;44:1-22.
  • 16. https://franklin.genoox.com/clinical-db/variant/snp/chr6-49403273-G-A 17. Dündar H, Özgül RK, Güzel-Ozantürk A, et al. Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations. Mol Genet Metab. 2012;106:419-423. Epub 2012 Jun 1. PMID: 22727635.
  • 18. Spada M, Calvo PL, Brunati A, et al. Early liver transplantation for neonatalonset methylmalonic acidemia. Pediatrics. 2015;136:e252-e256.
  • 19. An D, Schneller JL, Frassetto A, et al. Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia. Cell Rep. 2017;21:3548-3558.
  • 20. An D, Frassetto A, Jacquinet E, et al. Long-term efficacy and safety of mRNA therapy in two murine models of methylmalonic acidemia. EBioMedicine. 2019;45:519-528.

A Case of Late-Presenting Methylmalonic Acidemia from a Country Without Extended Newborn Screening

Yıl 2023, Cilt: 76 Sayı: 3, 287 - 290, 24.10.2023

Gökcan Öztürk

Öz

Methylmalonic acidemia (MMA) is an autosomal recessive disorder that may be caused by a complete (mut0) or partial (mut-) deficiency of the
methylmalonyl-CoA mutase, by defects in the synthesis or transport of the co-factor, or by a deficiency in methylmalonyl-CoA epimerase. Most
patients with MMA present with such signs and symptoms as lethargy, feeding problems, tachypnea and hypotonia after breastfeeding within the
first few days or weeks of life. In untreated cases, life-threatening acidosis, hyperammonemic encephalopathy, coma and death can occur. In the
present study we emphasize the importance of the early suspicion of inherited metabolic disorders in the differential diagnosis and treatment of an
MMA case who applied to the emergency department with atypical clinical findings after the age of 1, and who rapidly developed coma findings.
Although MMA frequently presents itself during the first days of life, it should be kept in mind in the differential diagnosis of metabolic acidosis,
especially in older patients with a high risk of inherited metabolic disorders and with atypical clinical and laboratory findings.

Anahtar Kelimeler

Metyhlmalonic Acidemia Organic Acidemia Ketoacidosis

Etik Beyan

Written consent was obtained from the patient and family members for photos.

Destekleyen Kurum

-

Proje Numarası

-

Teşekkür

-

Kaynakça

  • 1. Almási T, Guey LT, Lukacs C, et al. Systematic literature review and metaanalysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency. Orphanet J Rare Dis. 2019;14:1-10.
  • 2. Haijes HA, Jans JJM, Tas SY, et al. Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications. J Inherit Metab Dis. 2019;42:730-744
  • 3. Held PK, Singh E, Schwoerer JS. Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations. Int J Neonatal Screen. 2022;8:13.
  • 4. Fraser JL, Venditti CP. Methylmalonic and propionic acidemias: Clinical management update. Curr Opin Pediatr. 2016;28:682-693. 5. Kang L, Liu Y, Shen M, et al. A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia. J Inherit Metab Dis. 2020;43:409-423.
  • 6. Hacettepe Üniversitesi Nüfus Etütleri Enstitüsü, Türkiye Nüfus ve Sağlık Araştırması, Bölüm 4: Evlilik sf:47, 2019, Ankara.
  • 7. Eminoglu FT, Yekeduz Koc M, Dogulu N, et al. Inherited metabolic disorders in the neonatal intensive care unit: Red flags to look out for. Pediatr Int.2022;64:e14953.
  • 8. Baumgartner MR, Hörster F, Dionisi-Vici C, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014;9:1-36.
  • 9. Reddy N, Calloni SF, Vernon HJ. Neuroimaging Findings of Organic Acidemias and Aminoacidopathies. Radiographics. 2018;38:912-931.
  • 10. Zhang C, Wang X, Hao S, et al. Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia. Sci Rep. 2020;10:1-7.
  • 11. Şeker Yılmaz B, Kor D, Bulut FD, et al. Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia. Turkish J Med Sci. 2021;51:1220-1228.
  • 12. Heringer J, Valayannopoulos V, Lund AM, et al. Impact of age at onset and newborn screening on outcome in organic acidurias. J Inherit Metab Dis. 2016;39:341-353.
  • 13. Saini N, Malhotra A, Chhabra S, et al. Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants. Indian J Crit Care Med. 2015;19:183-185.
  • 14. Yu Y, Shuai R, Liang L, et al. Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study. Mol Genet Genomic Med. 2021;9:1-19.
  • 15. Hörster F, Tuncel AT, Gleich F, et al. Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut. J Inherit Metab Dis. 2020;44:1-22.
  • 16. https://franklin.genoox.com/clinical-db/variant/snp/chr6-49403273-G-A 17. Dündar H, Özgül RK, Güzel-Ozantürk A, et al. Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations. Mol Genet Metab. 2012;106:419-423. Epub 2012 Jun 1. PMID: 22727635.
  • 18. Spada M, Calvo PL, Brunati A, et al. Early liver transplantation for neonatalonset methylmalonic acidemia. Pediatrics. 2015;136:e252-e256.
  • 19. An D, Schneller JL, Frassetto A, et al. Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia. Cell Rep. 2017;21:3548-3558.
  • 20. An D, Frassetto A, Jacquinet E, et al. Long-term efficacy and safety of mRNA therapy in two murine models of methylmalonic acidemia. EBioMedicine. 2019;45:519-528.
Toplam 18 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Çocuk Sağlığı ve Hastalıkları (Diğer)
Bölüm Makaleler
Yazarlar

Gökcan Öztürk 0000-0001-8958-7968

Proje Numarası -
Yayımlanma Tarihi 24 Ekim 2023
Yayımlandığı Sayı Yıl 2023 Cilt: 76 Sayı: 3

Kaynak Göster

APA Öztürk, G. (2023). A Case of Late-Presenting Methylmalonic Acidemia from a Country Without Extended Newborn Screening. Ankara Üniversitesi Tıp Fakültesi Mecmuası, 76(3), 287-290. https://doi.org/10.4274/atfm.galenos.2023.50023
AMA Öztürk G. A Case of Late-Presenting Methylmalonic Acidemia from a Country Without Extended Newborn Screening. Ankara Üniversitesi Tıp Fakültesi Mecmuası. Ekim 2023;76(3):287-290. doi:10.4274/atfm.galenos.2023.50023
Chicago Öztürk, Gökcan. “A Case of Late-Presenting Methylmalonic Acidemia from a Country Without Extended Newborn Screening”. Ankara Üniversitesi Tıp Fakültesi Mecmuası 76, sy. 3 (Ekim 2023): 287-90. https://doi.org/10.4274/atfm.galenos.2023.50023.
EndNote Öztürk G (01 Ekim 2023) A Case of Late-Presenting Methylmalonic Acidemia from a Country Without Extended Newborn Screening. Ankara Üniversitesi Tıp Fakültesi Mecmuası 76 3 287–290.
IEEE G. Öztürk, “A Case of Late-Presenting Methylmalonic Acidemia from a Country Without Extended Newborn Screening”, Ankara Üniversitesi Tıp Fakültesi Mecmuası, c. 76, sy. 3, ss. 287–290, 2023, doi: 10.4274/atfm.galenos.2023.50023.
ISNAD Öztürk, Gökcan. “A Case of Late-Presenting Methylmalonic Acidemia from a Country Without Extended Newborn Screening”. Ankara Üniversitesi Tıp Fakültesi Mecmuası 76/3 (Ekim 2023), 287-290. https://doi.org/10.4274/atfm.galenos.2023.50023.
JAMA Öztürk G. A Case of Late-Presenting Methylmalonic Acidemia from a Country Without Extended Newborn Screening. Ankara Üniversitesi Tıp Fakültesi Mecmuası. 2023;76:287–290.
MLA Öztürk, Gökcan. “A Case of Late-Presenting Methylmalonic Acidemia from a Country Without Extended Newborn Screening”. Ankara Üniversitesi Tıp Fakültesi Mecmuası, c. 76, sy. 3, 2023, ss. 287-90, doi:10.4274/atfm.galenos.2023.50023.
Vancouver Öztürk G. A Case of Late-Presenting Methylmalonic Acidemia from a Country Without Extended Newborn Screening. Ankara Üniversitesi Tıp Fakültesi Mecmuası. 2023;76(3):287-90.
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