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Disorders of carbohydrate metabolism
Amino acid disorders
Disorders of organic acid metabolism
11 other sections not shown
abnormal accumulation acidaemia acidosis acute acyl CoA adrenal affected amino acid assay associated autosomal recessive biochemical biopsy biosynthesis blood catabolism cholesterol chromosome CoA dehydrogenase collagen complex concentrations cultured cytosolic dehydrogenase deficiency deletion dietary disorders enzyme activity enzyme defect erythrocytes excretion exon fatty acids fibroblasts fructose function galactose gene genetic glucose glycogen haem haemolytic anaemia hepatic hereditary heterozygotes hyperoxaluria Type hypoglycaemia increased Inherited Metabolic Disease Journal of Inherited lactate levels lipoprotein liver lysosomal McKusick membrane metabolites methylmalonic mitochondria mitochondrial molecular molecule mRNA mtDNA muscle mutation neonatal neurological normal occur organic acidurias oxidase oxidation P-oxidation pathway patients Pediatrics peroxisomal phenotype phenylalanine phenylketonuria phosphate plasma porphyria cutanea tarda prenatal diagnosis propionyl CoA protein purine pyrimidine pyruvate red cells red-cell reduced reductase renal residual respiratory chain severe specific steroid storage disease substrate subunits symptoms syndrome synthase synthesis therapy tion tissues transferase treatment Type tyrosinaemia urinary urine variant