SCOT deficiency is a genetic disorder caused by impaired ketone body metabolism. The disorder is characterised by intermittent ketoacidosis.
Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
5p13.1
SCOT deficiency is a genetic disorder caused by impaired ketone body metabolism. The disorder is characterised by intermittent ketoacidosis.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 245050.1.1 | United Arab Emirates | Female | No | Yes | Ketoacidosis; Tachycardia; Dehydration; ... Ketoacidosis; Tachycardia; Dehydration; Fever; Vomiting  | NM_000436.4:c.1286dup | Homozygous | Autosomal, Recessive | Yousef et al. 2020 | Proband |