Linked Life Data

20333879

Source:http://linkedlifedata.com/resource/pubmed/id/20333879

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2010-3-25
pubmed:abstractText
Medium-chain acyl-CoA deshydrogenase deficiency (MCADD) is the most frequent disorder of mitochondrial fatty acid oxidation (MFAO). We report a 3 year-old girl with enterovirus viremia who was referred after 36 hours of fasting with hypoketotic hypoglycemic coma and myolysis. Evolution was complicated by acute renal failure, increased serum levels of transaminases and hypoparathyroidism. Diagnosis of MCADD was supported by typical plasma acylcarnitine and urinary organic acid profiles, and confirmed by homozygosity for the common missense A985G mutation. Whereas myolysis is frequent in MFAO defects, it is rarely reported as a major accompanying sign in MCADD. Hypoparathyroidism has been previously reported in some MFAO deficiencies but has never been mentioned in association with MCADD. We review the possible mechanisms of hypoparathyroidism in MFAO deficiencies. Parathyroid glands and pancreas dysfunction should be screened in MFAO defects as these organs could be implicated in the clinical spectrum of the frequent A985G MCADD disease-causing mutation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0334-018X
pubmed:author
pubmed:issnType
Print
pubmed:volume
22
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1175-7
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Hypoketotic hypoglycemia with myolysis and hypoparathyroidism: an unusual association in medium chain acyl-CoA desydrogenase deficiency (MCADD).
pubmed:affiliation
APHP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et Maladies Héréditaires du Métabolisme, Paris, France. julien.baruteau@rdb.aphp.fr
pubmed:publicationType
Journal Article, Case Reports