Cargando…
Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report
OBJECTIVE: Biotin is a coenzyme composed of four carboxylases. It presents in amino acid catabolism, fatty acid synthesis, and gluconeogenesis. Biotinidase recycles the vitamin biotin. A biotinidase deficiency is a neurocutaneous disorder with autosomal recessive inheritance. The symptoms can be suc...
Autores principales: | , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Shahid Beheshti University of Medical Sciences
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515343/ https://www.ncbi.nlm.nih.gov/pubmed/26221165 |
_version_ | 1782382902226452480 |
---|---|
author | KOOHMANAEE, Shahin ZARKESH, Marjaneh TABRIZI, Manijeh HASSANZADEH RAD, Afagh DIVSHALI, Siamak DALILI, Setila |
author_facet | KOOHMANAEE, Shahin ZARKESH, Marjaneh TABRIZI, Manijeh HASSANZADEH RAD, Afagh DIVSHALI, Siamak DALILI, Setila |
author_sort | KOOHMANAEE, Shahin |
collection | PubMed |
description | OBJECTIVE: Biotin is a coenzyme composed of four carboxylases. It presents in amino acid catabolism, fatty acid synthesis, and gluconeogenesis. Biotinidase recycles the vitamin biotin. A biotinidase deficiency is a neurocutaneous disorder with autosomal recessive inheritance. The symptoms can be successfully treated or prevented by administering pharmacological doses of biotin. Although, according to neonatal prenatal medicine (2011), a biotinidase deficiency does not manifest during the neonatal period. In this study, we report on a case of biotinidase deficiency in the first week of birth. CASE REPORT: A 3100 g term boy was born via cesarean section. After 3 days, he was referred to the 17th Shahrivar Hospital with the chief complaint of tachypnea and grunting. Laboratory results revealed that liver and renal function tests, serum electrolytes, and blood indexes except ammonia were all normal. Within few days after the administration of oral biotin, the patient showed dramatic improvement and was discharged. However, within 4 months he was admitted two other times with the complaints of diarrhea and pneumonia. Unfortunately, he expired after 4 months. According to our results, it seems that clinicians should accurately assess suspicious patients and even assess infants for biotinidase deficiency. |
format | Online Article Text |
id | pubmed-4515343 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Shahid Beheshti University of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-45153432015-07-28 Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report KOOHMANAEE, Shahin ZARKESH, Marjaneh TABRIZI, Manijeh HASSANZADEH RAD, Afagh DIVSHALI, Siamak DALILI, Setila Iran J Child Neurol Case Report OBJECTIVE: Biotin is a coenzyme composed of four carboxylases. It presents in amino acid catabolism, fatty acid synthesis, and gluconeogenesis. Biotinidase recycles the vitamin biotin. A biotinidase deficiency is a neurocutaneous disorder with autosomal recessive inheritance. The symptoms can be successfully treated or prevented by administering pharmacological doses of biotin. Although, according to neonatal prenatal medicine (2011), a biotinidase deficiency does not manifest during the neonatal period. In this study, we report on a case of biotinidase deficiency in the first week of birth. CASE REPORT: A 3100 g term boy was born via cesarean section. After 3 days, he was referred to the 17th Shahrivar Hospital with the chief complaint of tachypnea and grunting. Laboratory results revealed that liver and renal function tests, serum electrolytes, and blood indexes except ammonia were all normal. Within few days after the administration of oral biotin, the patient showed dramatic improvement and was discharged. However, within 4 months he was admitted two other times with the complaints of diarrhea and pneumonia. Unfortunately, he expired after 4 months. According to our results, it seems that clinicians should accurately assess suspicious patients and even assess infants for biotinidase deficiency. Shahid Beheshti University of Medical Sciences 2015 /pmc/articles/PMC4515343/ /pubmed/26221165 Text en This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report KOOHMANAEE, Shahin ZARKESH, Marjaneh TABRIZI, Manijeh HASSANZADEH RAD, Afagh DIVSHALI, Siamak DALILI, Setila Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report |
title | Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report |
title_full | Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report |
title_fullStr | Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report |
title_full_unstemmed | Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report |
title_short | Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report |
title_sort | biotinidase deficiency in newborns as respiratory distress and tachypnea: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515343/ https://www.ncbi.nlm.nih.gov/pubmed/26221165 |
work_keys_str_mv | AT koohmanaeeshahin biotinidasedeficiencyinnewbornsasrespiratorydistressandtachypneaacasereport AT zarkeshmarjaneh biotinidasedeficiencyinnewbornsasrespiratorydistressandtachypneaacasereport AT tabrizimanijeh biotinidasedeficiencyinnewbornsasrespiratorydistressandtachypneaacasereport AT hassanzadehradafagh biotinidasedeficiencyinnewbornsasrespiratorydistressandtachypneaacasereport AT divshalisiamak biotinidasedeficiencyinnewbornsasrespiratorydistressandtachypneaacasereport AT dalilisetila biotinidasedeficiencyinnewbornsasrespiratorydistressandtachypneaacasereport |