栄養障害と治療のジャーナル

概要

Forgotten Nutritional Disease may Mimic Metabolic Disorders Scurvy

Isil Ozer, Zehra Kılınclı, Gulden Gokcay, Tolunay Baykal, Mubeccel Demirkol, Mehmet Mujdat 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.

Clinical features in scurvy resemble symptoms observed in some metabolic disorders. Careful clinical evaluation, dietary history and vitamin C assay may exclude uneccessary metabolic work-up.