Cute Baby Clothes Mahidol University Annual Research Abstracts 2000 287 MULTIPLE CARBOXYLASE DEFICIENCY IN A THAI INFANT Pornswan Wasant1, Isamu Matsumoto2, Somporn Liammongkolkul1 1Medical Genetics Unit, Department of Pediatrics, Siriraj Hospital Faculty of Medicine, Mahidol University , Bangkok , Thailand; 2MILS Matsumoto Institute of Life Sciences, Kanazawa Medical University, Kanazawa , Japan.
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treated, premature infants and their mothers. All 60 infants showed signs of acute oxidative stress. cysteine in the plasma, as well as blood selenium levels, treated premature infants without retinopathy. The mothers of the premature infants with retinopathy showed the same pattern of deficiencies as their babies. Vitamin E treatment of premature infants seemed to have a positive effect against the development of retinopathy of prematurity (Papp et al. 1997).
Punk Baby Clothes Multiple Carboxylase Deficiency (MCD) is a disorder of biotin metabolism resulting in deficiencies of at least 3 biotin-dependent mitochondrial carboxylases : propionyl - CoA carboxylase , 3 methyl crotonyl - CoA carboxylases and pyruvate carboxylase. There are 2 forms : a neonatal form and a juvenile form. We report an 8 months old male infant who presented with severe metabolic acidosis , an erythematous periorificial dermatitis and alopecia since 5 months of age. Quantitative plasma amino acids analysis was within normal limits : however urine organic acids analysis by gas liquid chromatography and mass spectrometry demonstrated a series of abnormal compounds characteristic of multiple carboxylase deficiency. Therapy consist of 60 - 80 mg of biotin per day with dramatic response. This is the first reported case of Multiple Carboxylase Deficiency in Thailand. PLASMA AMINO ACID AND URINE ORGANIC ACID ANALYSES OF METHYLMALONIC ACIDEMIA IN THAI INFANT C. Srisomsap1, P. Wasant2, J. Svasti1,3, D. Chokchaichamnankit1, and S. Liammongkolkul2 1Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok 10210 ; 2Medical Genetics Unit, Department of Pediatrics, Siriraj Hospital, Faculty of Medicine, Mahidol University, Bangkok 10700; and 3Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok 10400, Thailand.
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Cheap Baby Clothes Methylmalonic acidemia (MMA) is an inborn error of organic acid metabolism resulting from functional defects in methylmalonyl CoA mutase (MCM) which requires a vitamin B12 coenzyme, adenosyl-cobalamin. It is an autosomal recessive inherited disorder , usually presenting as life threatening or lethal metabolic ketoacidosis in neonatal or infantile forms.
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Alternative Baby Clothes We describe a 15-month-old Thai infant with neonatal onset who demonstrated typical biochemical abnormalities : methylmalonic aciduria , ketonuria and intermittent hyperglycemia : not responsive to administration of vitamin B12. Quantitative plasma amino acid analysis using the Waters PicotagTM system for biological fluids showed marked elevation of glycine (876.52 and 386.34 nmole/ml) in episodic metabolic acidosis. Urine organic acid analysis via high pressure liquid chromatography (HPLC) demonstrated methylmalonic acid (8.126 gm/L). Supported by a grant from the Chulabhorn Research Institute.
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