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Differential Diagnosis For Developmental milestones delayed: Metabolic, Storage Disorders


List of current finding(s):

Metabolic, Storage Disorders: next: Deficiency Causes
Hurler's mucopolysaccharidosis syndrome
Tay-Sachs disease
Combined carboxylase/Biotinidase deficiency
Molybdenum cofactor deficency
Propionicacidemia/ketotic glycinemia
Acyl-CoA Dehydrogenase/short chain def
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
Alpha-NAGA deficency (Schindler)
DiFerrente syndrome (Mucopolysaccharidosis VIII)
Fucosidosis (Anderson-Fabry)
Gaucher's disease
Glycogen storage muscle disease/Pompe
Hurler-Scheie compound syndrome/mucopol
Niemann-Pick disease
Sanfilippo's mucopolysaccharidosis synd
Tetrahydrobiopterin deficiency/Atypical PKU
Urea cycle/metabolic disorder
Barth Syndrome/3 MethylGlutoconic aciduria/MGA II