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Differential Diagnosis For Seizures/Children/recurrent: Metabolic, Storage Disorders


List of current finding(s):

Metabolic, Storage Disorders: next: Biochemical Causes
Enzyme defect/deficiency disorders
Primary lactic acidemia/children
Metabolic disorders
Porphyria, acute intermittent
Tay-Sachs disease
Combined carboxylase/Biotinidase deficiency
Cytochrome C Oxidase Deficiency/COX Complex Defect
French-Canadian type COX mitochondrial defect
Pyruvate carboxylase enzyme deficiency/PCD
Pyruvate Dehydrogenase Complex Deficiency/PDCD
Infantile mitochondrial myopathy/Cox defect
Pyridoxine dependency
Cerebral lipidosis disorder
Hyperglycinemia, nonketotic
Krebs cycle/EM cycle metabolic disorder
Ornithine Transcarbamylase (OTC) defic.
Prolinemia/type II
Proprionic acidemia/congenital
Sialidosis/Cherry Red Spot Myoclonus
Coproporphyria, hereditary
Hartnup disease
Juvenile ceroid lipofuscinosis/Batten-M
Maple syrup urine disease
McArdle's syndrome
Tetrahydrobiopterin deficiency/Atypical PKU