Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings

2021 ◽  
Author(s):  
Maxime Cadieux‐Dion ◽  
Jennifer Gannon ◽  
Brandon Newell ◽  
Amy Jo Nopper ◽  
Janda Jenkins ◽  
...  
Keyword(s):  
Delayed Diagnosis ◽  
Holocarboxylase Synthetase ◽  
Synthetase Deficiency ◽  
Holocarboxylase Synthetase Deficiency

scholarly journals First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency

2005 ◽  
Vol 25 (12) ◽  
pp. 1117-1119 ◽  
Author(s):  
Sabrina Malvagia ◽  
Amelia Morrone ◽  
Elisabetta Pasquini ◽  
Silvia Funghini ◽  
Giancarlo la Marca ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Holocarboxylase Synthetase ◽  
Synthetase Deficiency ◽  
Holocarboxylase Synthetase Deficiency

Biotinidase Deficiency and Biotin Holocarboxylase Synthetase Deficiency

2016 ◽  
Author(s):  
Barry Wolf ◽  
Sara Elrefai
Keyword(s):  
Newborn Screening ◽  
Biotinidase Deficiency ◽  
Limited Information ◽  
Older Individuals ◽  
Holocarboxylase Synthetase ◽  
Older Children ◽  
Inherited Disorders ◽  
Synthetase Deficiency ◽  
Treatment And Prevention ◽  
Holocarboxylase Synthetase Deficiency

Biotin holocarboxylase synthetase and biotinidase deficiencies are biotin-dependent, autosomal recessively inherited disorders. Untreated individuals with both disorders usually develop neurological and cutaneous symptoms during childhood. There is limited information about older children or adults with holocarboxylase synthetase deficiency. Older individuals with biotinidase deficiency may exhibit spastic paresis, scotomata, and progressive optic neuropathy. Both disorders are readily treated with oral biotin supplementation. Asymptomatic individuals with biotinidase deficiency are at risk of developing symptoms at any age. Newborn screening for both disorders has been adopted in many countries. Newborn screening has facilitated identification of presymptomatic individuals, thereby allowing for early treatment and prevention of symptoms.

A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy

2009 ◽  
Vol 31 (10) ◽  
pp. 775-778 ◽  
Author(s):  
Kyoko Yokoi ◽  
Tetsuya Ito ◽  
Yasuhiro Maeda ◽  
Yoko Nakajima ◽  
Yukihisa Kurono ◽  
...  
Keyword(s):  
Holocarboxylase Synthetase ◽  
Synthetase Deficiency ◽  
Insufficient Response ◽  
Holocarboxylase Synthetase Deficiency

Holocarboxylase synthetase deficiency: Report of a case with onset in late infancy

1999 ◽  
Vol 22 (2) ◽  
pp. 115-122 ◽  
Author(s):  
E. Touma ◽  
T. Suormala ◽  
E. R. Baumgartner ◽  
B. Gerbaka ◽  
H. Ogier de Baulny ◽  
...  
Keyword(s):  
Holocarboxylase Synthetase ◽  
Synthetase Deficiency ◽  
Holocarboxylase Synthetase Deficiency

Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review

2016 ◽  
Vol 46 (3) ◽  
pp. 357-364 ◽  
Author(s):  
Sahan P. Semasinghe Bandaralage ◽  
Soheil Farnaghi ◽  
Joel M. Dulhunty ◽  
Alka Kothari
Keyword(s):  
Systematic Review ◽  
Holocarboxylase Synthetase ◽  
Radiologic Diagnosis ◽  
Synthetase Deficiency ◽  
Holocarboxylase Synthetase Deficiency

Severe Holocarboxylase Synthetase Deficiency with Incomplete Biotin Responsiveness Resulting in Antenatal Insult in Samoan Neonates

2005 ◽  
Vol 147 (1) ◽  
pp. 115-118 ◽  
Author(s):  
Callum J. Wilson ◽  
Michael Myer ◽  
Brian A. Darlow ◽  
Thorsten Stanley ◽  
Glen Thomson ◽  
...  
Keyword(s):  
Holocarboxylase Synthetase ◽  
Synthetase Deficiency ◽  
Holocarboxylase Synthetase Deficiency
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