- Differential Diagnosis
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Differential Diagnosis For URINE Gas Chromatography/FA [MCAD] abnormal, Family history/Childhood CNS degenerating disease/death
List of current finding(s):
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- 14 possible diagnoses found
- Allergic, Collagen, Auto-Immune Disorders
- Reyes syndrome
- Metabolic, Storage Disorders
- Metabolic disorders
- Krebs cycle/EM cycle metabolic disorder
- MCAD/Medium chain OH-CoA Dehydrogenase def
- Fucosidosis (Anderson-Fabry)
- Tetrahydrobiopterin deficiency/Atypical PKU
- Hereditary, Familial, Genetic Disorders
- Infantile neuroaxonal dystrophy
- Ataxia/Oculomotor apraxia syndrome (9p13.3)
- MELAS Encephalopathy
- Alpers cerebral degeneration of infancy
- Cerebellar ataxia, congenital/hered.
- Hereditary mitochondrial disorder
- Pelizaeus-Merzbacher disease