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

Related topics

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21 relations
AlopeciaAutosomal recessive inheritanceBiotinComatose
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Papers overview

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Review
2017
Review
2017
Health benefits of anthocyanins and molecular mechanisms: Update from recent decade.
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
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder caused by defective activity of biotinidase or… (More)
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2008
2008
Management of a patient with holocarboxylase synthetase deficiency.
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 presenting as ichthyosis.
Holocarboxylase synthetase deficiency is a rare autosomal recessive disorder of biotin metabolism. Clinical manifestations… (More)
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2001
2001
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency
Holocarboxylase synthetase (HLCS) is an enzyme that catalyzes the incorporation of biotin into apo-carboxylases, and its… (More)
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1999
1999
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency.
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
Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency.
Holocarboxylase synthetase deficiency is typically a biotin responsive disorder that presents with lactic acidosis, tachypnea… (More)
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1996
1996
Late-onset holocarboxylase synthetase deficiency
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
A new case of holocarboxylase synthetase deficiency
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
Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia.
The clinical and biochemical features of an infant affected by holocarboxylase synthetase deficiency are presented. The patient… (More)
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