Chiong, Mary Anne D. Tan, Marilyn A. Dela Cruz-Rama, Kahlil Izza Demata, Michelle A. Salonga, Aida M. Lee, Joy Y. text monographic eng

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We report five Filipino male children from three families with the childhood cerebral form of adrenoleukodystrophy. All patients demonstrated deterioration in mental and developmental skills with onset of symptoms ranging from 6 to 9 years of age. Diagnosis was confirmed by elevated very long chain fatty acid (VLCFA) levels and characteristic magnetic resonance imaging (MRI) findings. Carrier testing was carried out. Genetic counseling was performed on families, thereby aiding them to cope and accept the diagnosis. Mary Anne D. Chiong [and six others] In: Acta Medica Philippina, 2009 vol 43 (1) pages: 43-48 Adrenoleukodystrophy diagnosis 210220 20210220144717.0 D0001J000096