Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine

Molecular Genetics and Metabolism

Volumn 105, Issue 2, 2012, Pages 228-236

  Mudd, S Harvey ^a   Wagner, Conrad ^b   Luka, Zigmund ^b   Stabler, Sally P ^c   Allen, Robert H ^c   Schroer, Richard ^d   Wood, Timothy ^d   Wang, Jing ^e   Wong, Lee Jun ^e  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^b VANDERBILT UNIVERSITY   (United States)

^c UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^d GREENWOOD GENETIC CENTER   (United States)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Depletion; DGUOK; Methionine; Mitochondria; MPV17; S adenosylmethionine

Indexed keywords

AMINOTRANSFERASE; CYSTATHIONINE; CYSTATHIONINE BETA SYNTHASE; GLYCINE METHYLTRANSFERASE; HOMOCYSTEINE; METHIONINE; METHIONINE ADENOSYLTRANSFERASE; MITOCHONDRIAL DNA; PYRIDOXINE; S ADENOSYLMETHIONINE; SARCOSINE; TYROSINE;

AMINOTRANSFERASE BLOOD LEVEL; ANOREXIA; AREFLEXIA; ARTICLE; ARTIFICIAL MILK; BODY HEIGHT; BODY WEIGHT; BONE DEMINERALIZATION; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CYTOPLASM; DAYTIME SOMNOLENCE; DISEASE COURSE; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME INHIBITION; FATIGUE; FEMALE; GENE MUTATION; GENETIC CODE; HEART MURMUR; HEMATEMESIS; HISTOPATHOLOGY; HOMOCYSTINURIA; HUMAN; HYPERTRANSAMINASEMIA; HYPOREFLEXIA; INFANT; KIDNEY FAILURE; LIVER CELL; LIVER CELL CARCINOMA; LIVER CIRRHOSIS; LIVER FAILURE; LIVER TRANSPLANTATION; LOOSE FECES; MALE; METABOLITE; MITOCHONDRIAL DNA DEPLETION SYNDROME; MUSCLE ATROPHY; MUSCLE HYPOTONIA; MUSCLE MASS; MUSCLE TONE; NEWBORN SCREENING; NYSTAGMUS; PERIODIC ACID SCHIFF STAIN; PHYSICIAN; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY CHAIN; SCHOOL CHILD; SEIZURE; SKULL FRACTURE; SPLENOMEGALY; STORAGE DISEASE; VISUAL IMPAIRMENT; WEIGHT GAIN; WEIGHT REDUCTION;

ADOLESCENT; BASE SEQUENCE; DNA, MITOCHONDRIAL; EXONS; FEMALE; GLYCINE N-METHYLTRANSFERASE; HUMANS; INFANT; LIVER; MALE; MEMBRANE PROTEINS; METHIONINE; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; S-ADENOSYLMETHIONINE; SEQUENCE DELETION;

EID: 84856097359     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.11.006     Document Type: Article

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