Histidinemia

Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.



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Narrow down the case reports



Total: 11 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
2
(4.0%)		 2422217
 Children with autistic behavior in a self-contained unit in the public schools.
Silver AA.
J Dev Behav Pediatr. 1986;7(2):84-92.
Autism
CUX1
Autistic Disorder Child Child, Preschool Developmental Disabilities Differential Diagnosis Females Homo sapiens Intellectual Disability Language Development Disorders Male Neurocognitive Disorders Schizophrenia, Childhood Special Education
        

Phenotype(s) retrieved from Orphanet

    Total: 7

HPO ID Term Frequency
HP:0002927 Histidinuria Obligate (100%)
HP:0010906 Hyperhistidinemia Obligate (100%)
HP:0000708 Behavioral abnormality Very rare (4-1%)
HP:0000752 Hyperactivity Very rare (4-1%)
HP:0001328 Specific learning disability Very rare (4-1%)
HP:0002167 Neurological speech impairment Very rare (4-1%)
HP:0011343 Moderate global developmental delay Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0001250 Seizures 2
HP:0002912 Methylmalonic acidemia 1
HP:0003074 Hyperglycemia 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
HAL histidine ammonia-lyase 3034