Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways

Molecular Genetics and Metabolism

Volumn 101, Issue 2-3, 2010, Pages 246-252

  Roe, Charles R ^a   Bottiglieri, Teodoro ^a   Wallace, Mary ^a   Arning, Erland ^a   Martin, Alan ^b  

^a BAYLOR RESEARCH INSTITUTE   (United States)

^b Texas Neurology   (United States)

Author keywords

Adult polyglucosan body disease; Anaplerotic diet therapy; APBD; Glycogen brancher enzyme deficiency; Glycogen storage disease type IV; Methylation; Triheptanoin

Indexed keywords

ACYLCARNITINE; AMINO ACID; CARBOXYLIC ACID; CHOLINE; CREATININE; DNA; GLUCOSE; GLYCOGEN; GUANIDINOACETIC ACID; HOMOCYSTEINE; TRIACYLGLYCEROL; TRIHEPTANOIN; UNCLASSIFIED DRUG;

ADULT; ADULT POLYGLUCOSAN BODY DISEASE; AGED; AMINO ACID ANALYSIS; AMINO ACID BLOOD LEVEL; ANAPLEROTIC DIET THERAPY; ARTICLE; BLOOD SAMPLING; CASE REPORT; DIET THERAPY; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; ENZYME ASSAY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GLYCOGEN BRANCHER ENZYME DEFICIENCY; GLYCOGEN METABOLISM; GLYCOGEN STORAGE DISEASE TYPE 4; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HISTOCHEMISTRY; HUMAN; JEW; MALE; METHYLATION; MULTIPLE SCLEROSIS; MUSCLE WEAKNESS; MYELIN DEFICIENCY; NERVE BIOPSY; ONSET AGE; PRIORITY JOURNAL; TREATMENT RESPONSE; URINALYSIS;

1,4-ALPHA-GLUCAN BRANCHING ENZYME; ADULT; AGED; CREATINE; FEMALE; GLUCANS; HUMANS; JEWS; MALE; METHYLATION; MIDDLE AGED; NERVOUS SYSTEM DISEASES; S-ADENOSYLHOMOCYSTEINE; S-ADENOSYLMETHIONINE; TRIGLYCERIDES;

EID: 77957241852     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.06.017     Document Type: Article

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