{"count":6723,"next":null,"previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6700&ordering=-identifier","results":[{"identifier":"3-hydroxy-3-methylglutaryl-CoA lyase deficiency.","acronym":"HMGCLD.","accession":"DI-00003","synonyms":"HL deficiency.; HMGCL deficiency.; HMG-CoA lyase deficiency.; Hydroxymethylglutaricaciduria.; Hydroxymethylglutaric aciduria.; ","cross_references":"MeSH; D000592.","definition":"An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases. ","keywords":null},{"identifier":"3-alpha-hydroxyacyl-CoA dehydrogenase deficiency.","acronym":"HADH deficiency.","accession":"DI-00002","synonyms":"HAD deficiency.; Hydroxyacyl-coenzyme A dehydrogenase deficiency.; SCHAD deficiency.; ","cross_references":"MeSH; D008659.","definition":"An autosomal recessive, metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death. ","keywords":null},{"identifier":"2,4-dienoyl-CoA reductase deficiency.","acronym":"DECRD.","accession":"DI-04240","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia. ","keywords":null}]}