Consanguineous 3‐methylcrotonyl‐CoA carboxylase deficiency: Early‐onset necrotizing encephalopathy with lethal outcome

Summary A patient with a severe neonatal variant of 3‐methylcrotonyl‐CoA carboxylase (MCC) deficiency is reported. The first child of healthy consanguineous Turkish parents presented on the second day of life with dehydration, cyanosis, no sucking, generalized muscular hypotonia, encephalopathy, res...

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Bibliographic Details
Published in:	Journal of inherited metabolic disease Vol. 28; no. 2; pp. 229 - 233
Main Authors:	Baykal, T., Gokcay, G. Huner, Ince, Z., Dantas, M. F., Fowler, B., Baumgartner, M. R., Demir, F., Can, G., Demirkol, M.
Format:	Journal Article
Language:	English
Published:	Dordrecht Kluwer Academic Publishers 01-01-2005 Blackwell Publishing Ltd
Subjects:	Carbon-Carbon Ligases - deficiency Carbon-Carbon Ligases - genetics Consanguinity Diagnosis, Differential Fatal Outcome Glycine - analogs & derivatives Glycine - urine Humans Infant Infant, Newborn Leukoencephalitis, Acute Hemorrhagic - diagnosis Leukoencephalitis, Acute Hemorrhagic - etiology Male Metabolism, Inborn Errors - complications Metabolism, Inborn Errors - diagnosis Metabolism, Inborn Errors - genetics Mutation RNA Splice Sites - genetics Valerates - urine
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Summary:	Summary A patient with a severe neonatal variant of 3‐methylcrotonyl‐CoA carboxylase (MCC) deficiency is reported. The first child of healthy consanguineous Turkish parents presented on the second day of life with dehydration, cyanosis, no sucking, generalized muscular hypotonia, encephalopathy, respiratory depression requiring mechanic ventilation, macrocephaly, severe acidosis and hypoglycaemia. Elevated C5‐OH‐carnitine in dried blood spot by tandem MS and elevated urinary excretion of 3‐hydroxyisovaleric acid and 3‐methylcrotonylglycine suggested MCC deficiency, confirmed by enzyme analysis in cultured fibroblasts. Cerebral ultrasonography and cranial CT findings revealed progressive changes such as disseminated encephalomalacia, cystic changes, ventricular dilatation and cerebral atrophy. Treatment with high‐dose biotin and protein‐restricted diet was ineffective and the patient died at the age of 33 days with progressive neurological deterioration. Mutation analysis revealed a homozygous mutation in the splice acceptor site of intron 15 in the MCC β‐subunit. Early‐onset severe necrotizing encephalopathy should be included in the differential diagnosis of isolated MCC deficiency.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0141-8955 1573-2665
DOI:	10.1007/s10545-005-4559-8