Ketoacidosis due to monocarboxylate transporter-1 deficiency

http://www.orpha.net/ORDO/Orphanet_438075

A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.

Orphanet

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438075

Childhood

Infancy

Autosomal recessive

Autosomal dominant

ICD-10:E88.8

OMIM:616095

Ketoacidosis due to monocarboxylate transporter-1 deficiency

ORPHA:438075

http://www.orpha.net/ORDO/Orphanet_438072

ORDO:Orphanet_438075

Ketoacidosis due to monocarboxylate transporter-1 deficiency

Worldwide AND has_cases/families_value : 9.0 (Case)

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

http://www.orpha.net/ORDO/Orphanet_438072

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493