A Novel Two-Nucleotide Deletion of MMADHC Gene Causing cblD Disease in a Chinese Family

Most of the laboratory tests demonstrated no obvious abnormalities; however, and blood gas analysis revealed decompensated metabolic acidosis (pH: 7.13; PaCO2: 13 mmHg [1 mmHg = 0.133 kPa]; and BEb: –22.7 mmol/L). In subsequent laboratory tests, liquid chromatography-tandem mass spectrometry showed...

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Bibliographic Details
Published in:Chinese medical journal 2018-10, Vol.131 (20), p.2477-2479
Main Authors: Wang, Chao, Zhang, Yu-Qin, Zhang, Shu-Hong, Meng, Ying-Tao, Lin, Shu-Xiang, Cai, Chun-Quan, Shu, Jian-Bo
Format: Article
Language:English
Subjects:
Asian Continental Ancestry Group
Child, Preschool
Chromatography
Correspondence
Cytoplasm
Disease
Female
Gene Deletion
Genes
Humans
Laboratories
Male
Mass spectrometry
Metabolism
Mitochondria
Mitochondrial Membrane Transport Proteins - genetics
Mutation
Nucleotides - genetics
Parents & parenting
Patients
Pedigree
Proteins
Scientific imaging
Urine
Vitamin B 12 - metabolism
Vomiting
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Summary:Most of the laboratory tests demonstrated no obvious abnormalities; however, and blood gas analysis revealed decompensated metabolic acidosis (pH: 7.13; PaCO2: 13 mmHg [1 mmHg = 0.133 kPa]; and BEb: –22.7 mmol/L). In subsequent laboratory tests, liquid chromatography-tandem mass spectrometry showed elevated blood level of propionyl carnitine (C3: 7.927 μmol/L; normal range: 0–5.140 μmol/L) and elevated C3/acetylcarnitine (C2) ratio (0.739; normal range: 0.020–0.290). Urine gas chromatography-mass spectrometry revealed a highly elevated ratio of methylmalonic acid (199.3; normal range:
ISSN:0366-6999
2542-5641
DOI:10.4103/0366-6999.243561