Inborn errors of metabolism: a three-year experience

Abstract

Metabolik yolaktaki bir enzim veya kofaktörün eksikliği ya da yokluğu sonucu özel bir metabolitin oluşamaması ya da birikimi Doğumsal Metabolik Hastalıklar (DMH)'a neden olmaktadır. Doğumda genellikle sağlıklı olan bu bebekler, doğumdan sonra saatler ya da günler içinde aktivitede azalma, beslenememe, solunum güçlüğü, bilinç değişikliği veya nöbet gibi semptomlarla başvururlar. Bu semptomlar DMH'a özgü olmadığından erken tanı ve tedavi ile komplikasyonların ve ölümlerin önlenmesinde klinik şüphe varlığı önemlidir. Bu çalışmada, yenidoğan döneminde tanı alan DMH'a sahip hastaların klinik ve biyokimyasal özelliklerinin değerlendirilmesi amaçlandı.

Retrospective Evaluation of Inborn Errors of Metabolisms in the Level III Neonatal Intensive Care Unit

“…34 (55.7%) of the cases included in the study were delivered by normal spontaneous vaginal delivery, and 27 (44.3%) were delivered by cesarean section. The median maternal age was 26 (19-40) years, the median number of pregnancies was 3 (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13). Demographic data are given in Table 1.…”

“…In the energy deficiency type, patients may have clinical signs from birth and may not have symptom-free intervals 5 . Almost all of the children with IEMs, especially those who have the intoxication type, appear normal at birth because toxic metabolites are removed from the placenta during the antenatal period through the mother's metabolism 4 . In our study, almost all of our patients had normal birth weight and normal gestational age (95% and 90%).…”

“…The fact that the time of onset of symptoms and the time of admission were so short may be due to the high level of awareness of the families and the high number of patients with a history of sibling death in our region. It is difficult to distinguish IEMs from other neonatal disorders, because the symptoms in the neonatal period are not specific and the patients usually present with symptoms that can be confused with neonatal sepsis, such as malnutrition, respiratory distress, convulsions, lethargy, vomiting, hypothermia, and seizures 4 . In our study, the most common symptoms were feeding difficulties, seizures, vomiting and decreased activity, which were consistent with the literature.…”

“…While morbidity and mortality may be prevented with early diagnosis and appropriate treatment methods in most of the disorders in Group 1 and Group 3, majority of the disorders in Group 2 cannot be treated 1 . Although the clinical findings of these disorders are very variable, they may present with a wide range of signs such as poor feeding, tachypnea, dyspnea, apnea, vomiting, feeding intolerance, hypotonia, convulsions, symptoms of shock and sudden death 4 . IEMs should be considered more frequently in cases with a history of sibling death or parental consanguinity 4 .…”

“…Although the clinical findings of these disorders are very variable, they may present with a wide range of signs such as poor feeding, tachypnea, dyspnea, apnea, vomiting, feeding intolerance, hypotonia, convulsions, symptoms of shock and sudden death 4 . IEMs should be considered more frequently in cases with a history of sibling death or parental consanguinity 4 .…”