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Differential Diagnosis For PROCESS/Enzyme defect/Metabolic disorder (ex): Metabolic, Storage Disorders

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List of current finding(s):

Metabolic, Storage Disorders: next: Deficiency Causes
Neonatal hyperbilirubinemia
Enzyme defect/deficiency disorders
Erythrocyte glycolytic enzyme defect
Oxalic aciduria stone former
Gilbert's syndrome
Hyperoxaluria, primary
Lactose intolerance
Primary lactic acidemia/children
Congenital erythropoetic porphyria
Cystinosis, adolescent
Glucose 6 PD deficiency
Mucopolysaccharidoses
Porphyria variegata
Porphyria, acute intermittent
Disaccharidase deficiency
Hemochromatosis
Hurler's mucopolysaccharidosis syndrome
Hyperalphalipoproteinemia, familial
Hypobetalipoproteinemia
RBC 2,3-diphosphoglycerate decrease/def
Renal glycosuria syndrome
Rotor syndrome
Tay-Sachs disease
Wilson's disease carrier
Abetalipoproteinemia (Bassen Kornzweig)
Congenital hypophosphatasia
Coproporphyria erythrohepatica
Hydroxyprolinemia, congenital
Citrullinemia/Argininsuccinicaciduria
Combined carboxylase/Biotinidase deficiency
Cytochrome C Oxidase Deficiency/COX Complex Defect
French-Canadian type COX mitochondrial defect
HyperArgininemia
Methyl crotonyl CoA carboxylase deficiency
Methylmalonic acidemia/ketotic glycine
Phenylketonuria/PKU
Propionicacidemia/ketotic glycinemia
Pyroglutamic acidemia
Pyruvate carboxylase enzyme deficiency/PCD
Pyruvate Dehydrogenase Complex Deficiency/PDCD
Analbuminemia
Infantile mitochondrial myopathy/Cox defect
Pyridoxine dependency
Acyl-CoA Dehydrogenase/short chain def
Alphamethylacetoacetate accumulation
Aminoacid enzyme/metabolic disorder
Anemia due to glutathione metab def
Beta-alaninemia
Beta-hydroxyisolvaleric acidemia
Carbamoyl phosphate synthetase defic
Crigler-Najjar syndrome
Embden-Meyerhof RBC membrane defects
Glutamic acidemia
HMG-CoA lyase deficiency
Hyperglycinemia, ketotic
Hypertyrosinemia, persistent
Krebs cycle/EM cycle metabolic disorder
LCHAD/Long chain OH-CoA dehydrogenase def
Leucine-sensitive hypoglycemia syndrome
Lysinemia
MCAD/Medium chain OH-CoA Dehydrogenase def
N-Acetylglutamate synthetase deficiency
Ornithine Transcarbamylase (OTC) defic.
Ornithinemia
Orotic aciduria, hereditary
Prolinemia/type I
Prolinemia/type II
Proprionic acidemia/congenital
RBC membrane enzyme defects
Saccharopinuria/lysine metabolism defect
Tyrosinemia, hereditary
Valinemia/Hypervalinemia
VLCHAD/Very Long chain OH-CoA dehydrogenase def
Wilsons Disease
Sulfhemoglobinemia
Acid phosphatase, lysosomal, deficiency
Adult amaurotic familial idiocy
Alkaptonuria/Ochronosis
Alpha-NAGA deficency (Schindler)
Aminoaciduria
Amylopectinosis (Andersen's) disease (GSD IV)
Aspartylglycosaminuria
Beta-glucuronidase deficiency syndrome (MPS VII)
Carbonic anhydrase I deficiency
Carnitine deficiency syndrome
Carnitine palmityltranferase deficiency
Carnosinemia
Cholesteryl ester storage disease
Citrullinuria
Coproporphyria, hereditary
Corticosterone methyl oxidase defic'y
Cyclic AMP kinase def/GSD X, liver
Cystathioninuria
Cystinosis
Cystinuria
DiFerrente syndrome (Mucopolysaccharidosis VIII)
Dihydrofolate reductase deficiency
Dubin-Johnson syndrome
Erythrocyte nucleotide metabolism def't
Forbes disease (Cori disease, III)
Formiminotransferase deficiency
Fructose 1,6 diphosphatase deficiency
Fructose intolerance, hereditary
Fructosuria, essential
Fucosidosis (Anderson-Fabry)
Galactosemia
Gangliosidosis, generalized (GM1)
Gaucher's disease
Glutamyl-cysteine synthetase deficiency
Glutaric aciduria/Acidemia
Glycogen storage muscle disease/Pompe
Glycogen synthetase deficiency
Hartnup disease
Hepatoerythropoetic porphyria
Hepatophosphorylase def. glycogenosis
Hexokinase deficiency RBC's
Histidinemia
Homocystinuria/homocystinemia
Hunter's mucopolysaccharidosis syndrome
Hurler-Scheie compound syndrome/mucopol
Hyperglycinuria
Hyperprolinemia
Isomaltose intolerance
Lactosuria
LCAT deficiency
Lesch-Nyhan syndrome
Liver Phosphorylase deficiency
Lysine intolerance
Macroamylasemia
Mannosidosis
Maple syrup urine disease
Maroteaux-Lamy Mucopolysaccharidosis VI Syndrome
McArdle's syndrome
Methyltetrahydofolate reductase defic
Morquio's mucopolysaccharidosis synd.
Pentosuria, essential
Phosphoenolpyruvate carboxykinase defic (PEPCK)
Phosphofructokinase def/GSD VII (Tarui)
Phosphoryl kinase defic/Glycogen SD IX
Pipecolic acidemia
Potassium renal transport defect,prim'y
Pseudo-vitamin D deficiency
Pyrimidine 5'nucleotidase deficiency
Pyruvate carboxylase deficiency,renal
Sandhoff disease
Sanfilippo's mucopolysaccharidosis synd
Sarcosinemia
Scheie syndrome
Sly syndrome/beta-glucuronidase deficiency
Sucrose intolerance (disaccharidase df)
Tangier's disease
Tetrahydrobiopterin deficiency/Atypical PKU
Transcobalamin II deficiency
Tricarboxylic acid metabolic deficiency
Trimethylaminemia/Choline metabolic def
5 alpha Reductase Deficiency Syndrome
Aromatase Deficiency Syndrome
Barth Syndrome/3 MethylGlutoconic aciduria/MGA II
Familial hypertriglyceridemia/VLDL/Type IV
Goldberg Syndrome
Trehalase Deficiency
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