Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
3q21.3
Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date. [From Orphanet]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 276880.1 | United Arab Emirates | Unknown | Intellectual disability; Attention def... Intellectual disability; Attention deficit hyperactivity disorder; Joint hypermobility;  | NM_144639.3:c.855G>A | Homozygous | Autosomal, Recessive | Al-Shamsi et al. 2016 |