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ketoacidosis due to monocarboxylate transporter-1 deficiency

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description A metabolic disorder characterized by recurrent ketoacidosis, a pathologic state due to ketone formation exceeding ketone utilization. The clinical consequences of ketoacidosis are vomiting, osmotic diuresis, dehydration, and Kussmaul breathing. The condition may progress to decreased consciousness and, ultimately, death.
Mondo Term and Equivalent IDs
MONDO:0014490:  ketoacidosis due to monocarboxylate transporter-1 deficiency
Orphanet:438075: 
UMLS:C4015186: