Ankur Singh1, Avinash Lomash2, Sanjeev Pandey3, Seema Kapoor4. 1. Assistant Professor, Genetic and Metabolic Clinic, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University , Varanasi, Uttar Pradesh, India . 2. Phd Scholar, Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital , New Delhi, India . 3. Senior Scientist (Biochemical Genetics), Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital , New Delhi, India . 4. Professor, Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital , New Delhi, India .
Abstract
INTRODUCTION: Biotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1, 10,000 respectively. The carrier frequency in general population is 1 in 120. We attempt to study clinical, biochemical and outcome from 10 Biotinidase deficient patients. MATERIALS AND METHODS: A retrospective case record study was conducted to record Clinical, biochemical and outcome profile from genetic records. Biotinidase level was measured using spectrophotometric method. RESULTS: Study group comprised of 8 males and 2 females with median age of presentation 6 (2-45.75) months. Median (interquartile range) Biotinidase level in study group 0.3 (0.08-1.5) nmol/ml/min. Study group was further divided in to early onset group (< 12 months, n-6) and late onset group (> 12 months, n-4). Seizure, alopecia and hearing loss were predominant phenotypes in study group. The other rare presentations were: hypotonia, ataxia, skin rash, seborrhoea. The most common seizure type was focal seizure. Control of seizure activity was important immediate outcome measured in study group. Median duration (interquartile range) of seizure control in early onset group was 3 (2-4)days against 13.5 (12.25-14.75) days in late onset group. CONCLUSION: This study highlights the need of early diagnosis for favourable outcome for a potentially treatable inherited metabolic disorder.
INTRODUCTION:Biotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1, 10,000 respectively. The carrier frequency in general population is 1 in 120. We attempt to study clinical, biochemical and outcome from 10 Biotinidase deficient patients. MATERIALS AND METHODS: A retrospective case record study was conducted to record Clinical, biochemical and outcome profile from genetic records. Biotinidase level was measured using spectrophotometric method. RESULTS: Study group comprised of 8 males and 2 females with median age of presentation 6 (2-45.75) months. Median (interquartile range) Biotinidase level in study group 0.3 (0.08-1.5) nmol/ml/min. Study group was further divided in to early onset group (< 12 months, n-6) and late onset group (> 12 months, n-4). Seizure, alopecia and hearing loss were predominant phenotypes in study group. The other rare presentations were: hypotonia, ataxia, skin rash, seborrhoea. The most common seizure type was focal seizure. Control of seizure activity was important immediate outcome measured in study group. Median duration (interquartile range) of seizure control in early onset group was 3 (2-4)days against 13.5 (12.25-14.75) days in late onset group. CONCLUSION: This study highlights the need of early diagnosis for favourable outcome for a potentially treatable inherited metabolic disorder.
Authors: Karl F Schettler; Beatrice Heineking; Silvia Fernandez-Rodriguez; Angelika Pilger; Nikolaus Alexander Haas Journal: J Pediatr Intensive Care Date: 2016-08-08