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Differential Diagnosis For Hypotonia: Metabolic, Storage Disorders


List of current finding(s):

Metabolic, Storage Disorders: next: Biochemical Causes
Primary lactic acidemia/children
Combined carboxylase/Biotinidase deficiency
Cytochrome C Oxidase Deficiency/COX Complex Defect
French-Canadian type COX mitochondrial defect
Molybdenum cofactor deficency
Pyruvate carboxylase enzyme deficiency/PCD
Pyruvate Dehydrogenase Complex Deficiency/PDCD
Infantile mitochondrial myopathy/Cox defect
Acyl-CoA Dehydrogenase/short chain def
Cerebral Gaucher's of infants (acute)
Cerebral lipidosis disorder
LCHAD/Long chain OH-CoA dehydrogenase def
MCAD/Medium chain OH-CoA Dehydrogenase def
Succinic Semialdehyde dehydrogenase Deficiency
VLCHAD/Very Long chain OH-CoA dehydrogenase def
Wolman Disease
Alpha-NAGA deficency (Schindler)
Carnitine deficiency syndrome
Farber disease/ceramide lipidosis
Fucosidosis (Anderson-Fabry)
Gangliosidosis, generalized (GM1)
Glycogen storage muscle disease/Pompe
Infantile ceroid lipofuscinosis/Finnish (Santvuori-Haltia)
Mucolipidosis IV (Bermans Syndrome)
Niemann-Pick disease
Phosphoenolpyruvate carboxykinase defic (PEPCK)
Tetrahydrobiopterin deficiency/Atypical PKU
Barth Syndrome/3 MethylGlutoconic aciduria/MGA II