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Cutaneous manifestations of NAXD deficiency - A case report

Mohammad Umair Malik1, Haleema Nadir1,2, Zita Maria Jessop1,3

  • 1The Welsh Centre for Burns and Plastic Surgery, Morriston Hospital, Heol Maes Eglwys, Morriston, Cwmrhydyceirw, Swansea, SA6 6NL, United Kingdom.

Annals of Medicine and Surgery (2012)
|November 23, 2020
PubMed

Insights

NAD(P)HX dehydratase (NAXD) deficiency, a rare lethal neurometabolic disorder, can cause severe systemic dysfunction in infants. This case highlights the critical need for early recognition and awareness of this condition among clinicians.

Area of Science:

  • Biochemistry
  • Metabolic Disorders
  • Enzymology

Background:

  • Metabolism involves regulated enzymatic reactions producing essential products and potentially harmful side products.
  • The nicotinamide repair system, including NAD(P)HX epimerase (NAXE) and NAD(P)HX dehydratase (NAXD), manages these metabolic byproducts.
  • Dysregulation of this system can lead to severe health consequences.

Observation:

  • An 11-month-old infant presented with pyrexia, lethargy, and widespread cutaneous lesions.
  • The infant had a confirmed deficiency in NAD(P)HX dehydratase (NAXD).
  • Despite antibiotic treatment, the patient's condition deteriorated.

Findings:

  • NAD(P)HX dehydratase (NAXD) deficiency is a lethal neurometabolic disorder.
  • The observed systemic dysfunction and cutaneous lesions were attributed to the underlying metabolic defect.
  • The patient's rapid decline underscored the severity of the condition.

Implications:

  • Clinicians must be aware of NAXD deficiency as a rare but critical cause of infant morbidity.
  • Early diagnosis and potential therapeutic strategies for NAXD deficiency require further investigation.
  • Understanding the systemic impact of metabolic disorders is crucial for effective patient management.
Keywords:
Case reportMetabolic disorderNAXD deficiencyNeurodegenerative diseaseNovelPaediatric disease

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