Miscellaneous Metabolic Disorders

Gene: SLC16A1

Green List (high evidence)

3 individuals with bi-allelic and 5 with mono-allelic variants reported. Individuals with bi-allelic variants had more severe presentation, including mild ID but unclear if this is primary or secondary to episodes of ketoacidosis.

All patients presented with bouts of ketoacidosis provoked by fasting or infections in the first years of life. Ketoacidotic episodes were preceded by poor feeding and vomiting and were associated with dehydration, which was a consequence of osmotic diuresis and vomiting. In all patients, treatment with intravenous glucose or dextrose, combined with bicarbonate, led to rapid clearance of metabolic acidosis. Early initiation of treatment appeared to prevent ketoacidosis, and ensuring adequate caloric intake reduced the number of episodes. The frequency of ketoacidotic episodes appeared to decrease over time, and none of the patients had documented ketoacidosis after 7 years of age, although some patients had marked ketonuria associated with mild infections.
Sources: Expert Review

Created: 11 May 2022, 8:18 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Monocarboxylate transporter 1 deficiency, MIM# 616095

Publications

• 25390740