Malik Mohammad Umair, Nadir Haleema, Jessop Zita Maria, Cubitt Jonathan James
The Welsh Centre for Burns and Plastic Surgery, Morriston Hospital, Heol Maes Eglwys, Morriston, Cwmrhydyceirw, Swansea, SA6 6NL, United Kingdom.
Barts and the London School of Medicine and Dentistry, Whitechapel, London, E1 2AD, United Kingdom.
Ann Med Surg (Lond). 2020 Nov 7;60:352-355. doi: 10.1016/j.amsu.2020.11.026. eCollection 2020 Dec.
Metabolism is a tightly regulated sequence of events, supported by key reactions between enzymes and enzyme-specific substrates. These reactions have the potential to produce metabolic side products that can have deleterious effects to further key metabolic reactions. The nicotinamide repair system consists of two partner enzymes, NAD(P)HX epimerase (NAXE) and NAD(P)HX dehydratase (NAXD). These enzymes regulate the levels of metabolic side products. Here we present a case of an 11-month old child who presented to our paediatric department with pyrexia, lethargy and multiple cutaneous lesions on the background of NAXD deficiency, a lethal neurometabolic disorder of early childhood. Despite early intervention with intravenous antibiotics, the patient failed to improve and subsequently passed away. The skin lesions were thought to be a consequence of systemic disease rather than a propagator of infection. Clinicians should be aware of this incredibly rare metabolic disease, its potential to cause widespread systemic dysfunction and the developing avenues for management.
新陈代谢是一系列受到严格调控的事件序列，由酶与酶特异性底物之间的关键反应所支持。这些反应有可能产生代谢副产物，而这些副产物可能会对进一步的关键代谢反应产生有害影响。烟酰胺修复系统由两种协同酶组成，即NAD(P)HX差向异构酶（NAXE）和NAD(P)HX脱水酶（NAXD）。这些酶调节代谢副产物的水平。在此，我们报告一例11个月大的儿童病例，该患儿因NAXD缺乏症（一种幼儿期致命的神经代谢疾病）就诊于我们的儿科，伴有发热、嗜睡和多处皮肤病变。尽管早期采用静脉抗生素进行了干预，但患者病情未见改善，随后死亡。皮肤病变被认为是全身性疾病的后果，而非感染的传播者。临床医生应了解这种极其罕见的代谢疾病、其导致广泛全身功能障碍的可能性以及不断发展的治疗途径。
