Monocarboxylate transporter 1 deficiency

Monocarboxylate transporter 1 deficiency is an autosomal recessive of dominant disorder caused by loss-of-function mutations of the SLC16A1 gene. Patients develop severe ketoacidosis provoked by fasting or infections. The recessive form may also result in developmental delay.

Systematic

Aminoaciduria
	Cystinuria
	Dicarboxylic aminoaciduria
	Erythrocyte lactate transporter defect
	Fanconi renotubular syndrome
	Fanconi-Bickel syndrome
	Hartnup disorder
	Hyperglycinuria
	Iminoglycinuria
	Lysinuric protein intolerance
	Monocarboxylate transporter 1 deficiency
		SLC16A1
	SLC36A1
	SLC3A2
	SLC6A18
	SLC7A8

References:

1.	van Hasselt PM et al. (2014) Monocarboxylate transporter 1 deficiency and ketone utilization.

2.	Orphanet article Orphanet ID 165991

3.	OMIM.ORG article Omim 616095