[Consensus on screening, diagnosis and treatment of multiple acyl-CoA dehydrogenase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(5): 414-418, 2021 May 10.
Article
in Zh
| MEDLINE
| ID: mdl-33974246
ABSTRACT
Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaricacidemia type II, is a relatively common disorder of fatty acid oxidation metabolism. The clinical manifestations are highly heterogeneous, symptoms can develop from newborn to adulthood. Neonatal onset type is more serious with high mortality. The symptoms of late onset patients include lipid deposition myopathy and vomiting, liver disease, and encephalopathy. Analysis of blood acyl carnitine spectrum by tandem mass spectrometry can be used for the screening. Late onset patients have relatively good prognosis with vitamin B2 treatment. The purpose of this consensus is to standardize the diagnosis, treatment and management of MADD, so as to improve the prognosis of patients and reduce death and disability.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
/
Muscular Diseases
Type of study:
Diagnostic_studies
/
Guideline
/
Prognostic_studies
/
Screening_studies
Limits:
Adult
/
Humans
/
Newborn
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Journal subject:
GENETICA MEDICA
Year:
2021
Document type:
Article
Affiliation country:
China