MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY

Question 1

What is  MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY?

Accepted Answer

rare
autosomal dominant
autosomal recessive
mutation in the MCT1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Ketoazidose durch Monocarboxylat-Transporter 1-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616095

Question 4

Which enzymes are involved?

Accepted Answer

Monocarboxylate transporter 1

Disease	MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
Synonym	MCT1; GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME (GLUT1-DS)
OMIM	616095 OMIM = Online Mendelian Inheritance of Men
Orphanet	438075
Protein (UniProt)	Monocarboxylate transporter 1
Gene locus	1p13.2
ICD	E88.8
Summary	rare autosomal dominant autosomal recessive mutation in the MCT1 gene
Laboratory findings	2-Methylacetoacetic acid normal/inc (urine) 3-Hydroxybutyric acid inc (urine) 3-Hydroxybutyric acid inc (urine) Acetoacetic acid inc (urine) D-Glucose normal/dec (plasma) Ketone bodies (urine) inc (urine) Tiglylglycine normal/inc (urine)
Symptoms	dehydration developmental delay feeding difficulties, poor feeding hypoglycemia intellectual disability/intellectual developmental disorder ketosis, ketoacidosis metabolic acidosis onset, childhood onset, infancy tachypnea, hyperpnea, dyspnea, hyperventilation vomiting