Multiple carboxylase deficiency
http://dbpedia.org/resource/Multiple_carboxylase_deficiency an entity of type: Thing
Ein Multipler Carboxylase-Mangel ist eine sehr seltene angeborene, autosomal rezessiv vererbte Stoffwechselstörung. Es werden zwei Formen unterschieden:
* Holocarboxylase-Synthetase-Mangel, Synonym: Holocarboxylase-Synthase-Mangel; englisch holocarboxylase synthetase deficiency; HCS, Manifestation bereits im Neugeborenenalter
* Biotinidasemangel, Synonym: Spät einsetzender multipler Carboxylasemangel; englisch Biotinidase deficiency; late-onset multiple carboxylase deficiency, Krankheitsausbruch zu einem späteren Lebenszeitpunkt
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Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes. The deficiency can be in biotinidase or holocarboxylase synthetase. These conditions respond to biotin. Forms include:
* Holocarboxylase synthetase deficiency - neonatal;
* Biotinidase deficiency - late onset;
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Multipler Carboxylase-Mangel
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Multiple carboxylase deficiency
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Multiple carboxylase deficiency
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Multiple carboxylase deficiency
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62151000119109
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D009100
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148
rdf:langString
Ein Multipler Carboxylase-Mangel ist eine sehr seltene angeborene, autosomal rezessiv vererbte Stoffwechselstörung. Es werden zwei Formen unterschieden:
* Holocarboxylase-Synthetase-Mangel, Synonym: Holocarboxylase-Synthase-Mangel; englisch holocarboxylase synthetase deficiency; HCS, Manifestation bereits im Neugeborenenalter
* Biotinidasemangel, Synonym: Spät einsetzender multipler Carboxylasemangel; englisch Biotinidase deficiency; late-onset multiple carboxylase deficiency, Krankheitsausbruch zu einem späteren Lebenszeitpunkt
rdf:langString
Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes. The deficiency can be in biotinidase or holocarboxylase synthetase. These conditions respond to biotin. Forms include:
* Holocarboxylase synthetase deficiency - neonatal;
* Biotinidase deficiency - late onset; If left untreated, the symptoms can include feeding problems, decreased body tone, generalized red rash with skin exfoliation and baldness, failure to thrive, seizure, coma, developmental delay, foul smelling urine, lactic acidosis, and high levels of ketones and ammonia in the blood.
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148