Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 10-year-old boy first showed features of infantile autism at age 24 months. Histidinemia was also diagnosed, with histidine blood levels seven times higher than the upper normal values. If the coexistence of autism and histidinemia was not coincidental, histidinemia may have constituted a necessary but not sufficient factor leading to the clinical condition of autism. Other members of the patient's family had high blood levels of histidine, but did not show symptoms that have been related to histidinemia.
J Autism Dev Disord 1979 Mar
PMID:Histidinemia and infantile autism. 43 13

The diagnosis of "autism" has been used to encompass a heterogeneous group of children who may differ in etiology, clinical manifestations, prognosis, and needed treatment. This paper presents the results of a comprehensive evaluation, using strict diagnostic criteria, of 33 children comprising the entire population of a self-contained unit for "autistic" children in the public school system of Hillsborough County, Florida. Only five of the children fit the criteria for early infantile autism. Six were diagnosed as suffering from schizophrenia, two as atypical developmental disorders. Twelve of the 33 showed evidence of neurological or recognized genetic abnormality, five had specific developmental language disorders, and three were severely retarded, cause unknown. Of the 12 children with evidence of neurological disease, five had chromosome abnormalities evident on cytogenetic study, two had high serum Cux++, one had histidinemia, one had maternal rubella, and three had dyskinesis of unknown origin. The heterogeneous nature of this group underlines the need for comprehensive evaluation of the autistic syndrome.
 ...
PMID:Children with autistic behavior in a self-contained unit in the public schools. 242 17

Although the exact prevalence of metabolic abnormalities in autism spectrum disorders is unknown, several metabolic defects have been associated with autistic symptoms. These include phenylketonuria, histidinemia, adenylosuccinate lyase deficiency, dihydropyrimidine dehydrogenase deficiency, 5'-nucleotidase superactivity, and phosphoribosylpyrophosphate synthetase deficiency. When the metabolic consequences of an enzyme defect are well defined (e.g., phenylketonuria, 5'-nucleotidase superactivity), treatment with diet, drugs, or nutritional supplements may bring about a dramatic reduction in autistic symptoms. This review evaluates evidence for metabolic etiologies in autism spectrum disorders, as well as for the efficacy of dietary and vitamin treatments. The relationship between gastrointestinal abnormalities and autism spectrum disorders is also considered.
J Autism Dev Disord 2000 Oct
PMID:Metabolic approaches to the treatment of autism spectrum disorders. 1109 86