Format

Send to

Choose Destination
Pediatr Int. 2019 Apr 29. doi: 10.1111/ped.13872. [Epub ahead of print]

Medium-chain acyl-coenzyme A dehydrogenase deficiency: six cases in the Chinese population.

Author information

1
Department of Laboratory Animal Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, 300020, China.
2
Reproductive center Gansu Provincial Maternity and Child-care Hospital, Lanzhou, 730000, China.
3
Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
4
State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Center for Stem Cell Medicine, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, 300020, China.

Abstract

OBJECTIVE:

Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is a rare autosomal recessive disorder that affects the degradation of medium-chain fatty acids. Few cases of MCADD have been documented to date in mainland China.

METHODS:

MCADD were diagnosed in six patients (3 girls and 3 boys) from 6 unrelated Chinese families at ages ranging from 10 days to 3 years old. The diagnosis was confirmed by the identification of a primary biomarker of serum octanoyl-carnitine (C8) and genetic pathogenic mutations.

RESULTS:

Only two patients were admitted because of vomiting, diarrhea, myasthenia, and coma; the other four patients got their diagnosis via the newborn screening process. Six mutations were found in the ACADM gene. One mutation (c.727C>T) was novel and the others (c.158G>A, c.387+1delG, c.449_452del, c.1045C>T, and c.1085G>A) have been previously reported.

CONCLUSIONS:

Six Chinese cases of MCADD were identified. One novel mutation was found. c.449_452del and c.1085G>A were common mutations in this study. This article is protected by copyright. All rights reserved.

KEYWORDS:

MCADD ; ACADM, Medium-chain acyl-CoA dehydrogenase deficiency

PMID:
31033143
DOI:
10.1111/ped.13872

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center