Aromatic l-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma

Molecular Genetics and Metabolism

Volumn 115, Issue 2-3, 2015, Pages 91-94

  Atwal, Paldeep S ^a   Donti, Taraka R ^a   Cardon, Aaron L ^a   Bacino, C A ^a   Sun, Qin ^a   Emrick, L ^a   Reid Sutton, V ^a   Elsea, Sarah H ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

3 methoxytyrosine; 3 O methyldopa; Aromatic l amino acid decarboxylase deficiency; Metabolomic profiling; Oculogyric crisis

Indexed keywords

3 O METHYLDOPA; AROMATIC LEVO AMINO ACID DECARBOXYLASE; 3-METHOXYTYROSINE; 3-O-METHYL-DOPA; DOPA; TYROSINE;

AROMATIC LEVO AMINO ACID DECARBOXYLASE DEFICIENCY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CEREBRAL PALSY; CEREBROSPINAL FLUID ANALYSIS; CESAREAN SECTION; CHILD; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DIAGNOSTIC TEST; ENZYME DEFICIENCY; EXOME; FACE DYSMORPHIA; FACIES; FOCAL EPILEPSY; FOLLOW UP; HEAD CIRCUMFERENCE; HETEROZYGOTE; HIGH ARCHED PALATE; HUMAN; HYPERBARIC OXYGEN; HYPOGLYCEMIA; INBORN ERROR OF METABOLISM; MALE; MASS SPECTROMETRY; METABOLOMICS; MOLECULAR DIAGNOSIS; MUSCLE HYPOTONIA; OCULOGYRIC CRISIS; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; RARE DISEASE; SEPSIS; SOMNOLENCE; SPASTICITY; UPPER LIP; ANALOGS AND DERIVATIVES; BLOOD; DEFICIENCY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; GENETICS; INFANT; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID METABOLISM, INBORN ERRORS; AROMATIC-L-AMINO-ACID DECARBOXYLASES; DIHYDROXYPHENYLALANINE; DOPA DECARBOXYLASE; HUMANS; INFANT; MALE; METABOLOMICS; POLYMORPHISM, SINGLE NUCLEOTIDE; TYROSINE;

EID: 84930180113     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2015.04.008     Document Type: Article

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