Linked Life Data

7825232

Source:http://linkedlifedata.com/resource/pubmed/id/7825232

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1995-2-14
pubmed:abstractText
There are two genetically determined biotin-dependent disorders. The first is holocarboxylase synthetase (HCS) deficiency and the second biotinidase deficiency. HCS catalyzes the reaction in which active holocarboxylases are synthesized from inactive apocarboxylases. Biotin is required for this synthesis. Biotinidase facilitates the release and recycling of free biotin. Deficiency of either HCS or biotinidase is characterized by certain neurological, cutaneous and biochemical abnormalities. In this paper, six patients with biotinidase and two patients with HCS deficiency are described. Among the most common neurological findings were hypotonia (6/8), seizures (2/6) and optic atrophy (2/8). Dermatitis and conjunctivitis were present in three and four patients, respectively. All patients had low blood pH bicarbonate levels. Serum lactate was increased in all and pyruvate in six cases. Two patients with biotinidase deficiency presented earlier than the mean age of onset previously reported in the literature. Detection of eight cases during the past few years at a single metabolic unit indicates that biotinidase deficiency is not rare in Turkey, where the frequency of some other metabolic disorders has also been reported to be high. We suggest that biotin-dependent disorders should be considered in all infants with neurological symptoms, particularly those with jerks, even if other signs such as alopecia, seborrheic dermatitis and acidosis are not evident, regardless of the age of presentation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0041-4301
pubmed:author
pubmed:issnType
Print
pubmed:volume
36
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
267-78
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases.
pubmed:affiliation
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
pubmed:publicationType
Journal Article, Case Reports