Journal of Nutritional Disorders & Therapy

Mehmet Müjdat Uysal

Publications

• Case Report
  Forgotten Nutritional Disease may Mimic Metabolic Disorders Scurvy
  Author(s): Işıl Özer, Zehra Kılınçlı, Gülden Gökçay, Tolunay Baykal, Mübeccel Demirkol and Mehmet Müjdat UysalIşıl Özer, Zehra Kılınçlı, Gülden Gökçay, Tolunay Baykal, Mübeccel Demirkol and Mehmet Müjdat Uysal
  
  Vitamin C is the cofactor in the biosynthesis of collagen, catecholamines and iron metabolism. The clinical features of scurvy may resemble metabolic disorders and hamper early diagnosis. A 2-year, 5-months old male child was admitted to hospital with complaints of growth retardation, irritability, joint deformities, and frequent illness. Severe malnutrition, coarse facial appearance, gingival hypertrophy, organomegaly, osteoporosis and anemia were detected. Screening for inborn errors revealed generalized aminoaciduria and elevated blood free carnitine. His dietary history revealed poor consumption of vitamin C. Vitamin C level was 0.05 mg/L (n: 4-21) in plasma, 2.85 mg/24 hour (n:10-30) in urine, and 1.03 mg/6 hours in urine after intravenous loading. The patient was given 200 mg/day vitamin C orally. Irritability and bone sensitivity decreased after the first two days... View More»
  DOI: 10.4172/2161-0509.1000113

  Abstract PDF