Multiple carboxylase deficiency/biotinidase deficiency

2020 ◽  
pp. 52-61
Author(s):  
William L. Nyhan ◽  
Georg F. Hoffmann ◽  
Aida I. Al-Aqeel ◽  
Bruce A. Barshop
Keyword(s):  
Biotinidase Deficiency ◽  
Multiple Carboxylase Deficiency

scholarly journals Case report of early biotinidase deficiency, a type of multiple carboxylase deficiency

2021 ◽  
Vol 8 (7) ◽  
pp. 1290
Author(s):  
Cheruku Rajesh ◽  
N. Shivaramakrishna Babji ◽  
Mohammed Ashraf Mohiddin Siddiq
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Case Report ◽  
Biotinidase Deficiency ◽  
Multiple Carboxylase Deficiency ◽  
The Central Nervous System ◽  
Biotin Supplementation

Early biotinidase deficiency is an inherited form of multiple carboxylase deficiency leading to increased accumulation of biocytin and decreased biotin, predominantly effecting the central nervous system and skin. The symptoms can be reversed by early biotin supplementation.

scholarly journals Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

1983 ◽  
Vol 131 (3) ◽  
pp. 273-281 ◽  
Author(s):  
Barry Wolf ◽  
Robert E. Grier ◽  
Richard J. Allen ◽  
Stephen I. Goodman ◽  
Craig L. Kien
Keyword(s):  
Late Onset ◽  
Biotinidase Deficiency ◽  
Multiple Carboxylase Deficiency ◽  
Enzymatic Defect

scholarly journals Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient

2021 ◽  
Author(s):  
Jia Geng ◽  
Yi Sun ◽  
Yi Zhao ◽  
Wenyu Xiong ◽  
Mingjun Zhong ◽  
...  
Keyword(s):  
Biotinidase Deficiency ◽  
Chinese Patient

Partial biotinidase deficiency: Clinical and biochemical features

1990 ◽  
Vol 116 (1) ◽  
pp. 78-83 ◽  
Author(s):  
Julie R. Secor McVoy ◽  
Harvey L. Levy ◽  
Michael Lawler ◽  
Michael A. Schmidt ◽  
Douglas D. Ebers ◽  
...  
Keyword(s):  
Biotinidase Deficiency ◽  
Biochemical Features

scholarly journals Prenatal Administration of Biotin in Biotin Responsive Multiple Carboxylase Deficiency

1982 ◽  
Vol 16 (2) ◽  
pp. 126-129 ◽  
Author(s):  
Karl S Roth ◽  
William Yang ◽  
Lorraine Allan ◽  
Mary Saunders ◽  
Roy A Gravel ◽  
...  
Keyword(s):  
Multiple Carboxylase Deficiency
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