Holocarboxylase Synthetase Deficiency

Known as: Early Onset Combined Carboxylase Deficiency, Holocarboxylase Synthetase Deficiency [Disease/Finding], MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET 
A rare autosomal recessive inherited disorder caused by mutations in the HLCS gene. It is characterized by deficiency of the enzyme holocarboxylase… (More)
National Institutes of Health

Papers overview

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Review
2017
Review
2017
Anthocyanins are one of the most widespread families of natural pigments in the plant kingdom. Their health beneficial effects… (More)
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2009
2009
Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder caused by defective activity of biotinidase or… (More)
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2008
2008
We investigated in a patient with holocarboxylase synthetase deficiency, the relation between the biochemical and genetic factors… (More)
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2006
2006
Holocarboxylase synthetase deficiency is a rare autosomal recessive disorder of biotin metabolism. Clinical manifestations… (More)
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2001
2001
Holocarboxylase synthetase (HLCS) is an enzyme that catalyzes the incorporation of biotin into apo-carboxylases, and its… (More)
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1999
1999
Holocarboxylase synthetase is one of two enzymes known to be involved in the metabolism of biotin. It catalyses the fixation of… (More)
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1997
1997
Holocarboxylase synthetase deficiency is typically a biotin responsive disorder that presents with lactic acidosis, tachypnea… (More)
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1996
1996
We report a 21-month-old female patient whose urine organic acid profile suggested a biotin utilization abnormality consistent… (More)
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1989
1989
V.G. is a Spanish girl, born at term after an uncomplicated pregnancy and delivery, from young, healthy and unrelated parents… (More)
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1980
1980
The clinical and biochemical features of an infant affected by holocarboxylase synthetase deficiency are presented. The patient… (More)
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