Genişletilmiş Yenidoğan Programı Olmayan Bir Ülkede Geç Başlangıçlı Metilmalonik Asidemi Olgusu

Year 2023, Volume: 76 Issue: 3, 287 - 290, 30.06.2024

Gökcan Öztürk Pelin Altınbezer Merve Koç Yekedüz Engin Köse Tanıl Kendirli Fatma Tuba Eminoğlu

Abstract

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.

Keywords

Metilmalonik Asidemi , Organik Asidemi , Ketoasidoz

Ethical Statement

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Thanks

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

Abstract

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.

Keywords

Metyhlmalonic Acidemia , Organic Acidemia , Ketoacidosis

Ethical Statement

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

Supporting Institution

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Project Number

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Thanks

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References

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