Table 2 Characteristics of the patients with MCT1 deficiency
van Hasselt, 2014 | Al-Khawaga 2019 | Nicolas-Jilwan, 2020; 2 siblings | Balasubramaniam, 2015 | Le, 2020 | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Ethnicity | Syrian | Irish | Turkish | British | British | British | British | Dutch | Dutch | nr | nr | nr | British | Sephardic Jewish |
Consanguinity | Yes | No | Yes | Yes | Yes | Yes | ||||||||
Allele 1 (Variant/ Effect) | c.41dup (p.Asp15Argfs*34) | c.937C > T (p.Arg313*) | c.982C > T (p.Arg328*) | c.586C > T (p.Arg196*) | c.747_750del (p.Asn250Serfs*5) | c.747_750del (p.Asn250Serfs*5) | c.499del (p.Val167Phefs*13) | c.490dup (p.Leu164Profs*46) | c.938G > A (p.Arg313Gln)† | c.218del (p.Gly73Valfs*8) | c.1079del (p.Ala360Glyfs*19) | Sibling of the previous patient (no genetic study performed) | c.982C > T (p.Arg328*) | c.41dup (p.Asp15Argfs*34) |
Allele 2 (Variant/ Effect) | c.41dup (p.Asp15Argfs*34) | c.937C > T (p.Arg313*) | c.982C > T (p.Arg328*) | – | – | – | – | – | – | c.218del (p.Gly73Valfs*8) | c.1079del (p.Ala360Glyfs*19) | – | – | |
Metabolic derangement | Profound ketoacidosis | Profound ketoacidosis | Profound ketoacidosis | Cyclic vomiting | Ketoacidosis | Ketoacidosis | Ketotic hypoglycemia | Ketoacidosis | Cyclic vomiting | Recurrent attacks of hypoglycemia and metabolic acidosis; massive ketonuria, normal acid lactic | Recurrent ketoacidosis, no hypoglycemia | Recurrent ketoacidosis, hypoglycemia | Recurrent ketoacidosis, no hypoglycemia | Ketotic hypoglycemia on ketogenic diet |
Metabolic screening | – | – | – | – | – | – | – | – | – | Normal serum ammonia, lactate, pyruvate, amino acids, and acyl carnitine. Normal urine succinyl acetone, orotic, and organic acids | Normal plasma lactate, and ammonia | – | Normal serum ammonia and lactate. Massive ketonuria, increased urine 2- methyl-3-hydroxybutyrate, 2-methylacetoacetate and tiglylglycine | – |
Brain MRI | – | – | – | – | – | – | – | – | – | Heterotopia, white matter diffuse alterations. Normal spectroscopy (no lactate elevation) | White matter diffuse alteration, including basal ganglia, corpus callosum agenesia | White matter diffuse alteration, including basal ganglia, corpus callosum agenesia | – | Normal |
Epilepsy | – | Yes | – | – | – | – | – | – | – | Yes | Yes | Generalized tonic–clonic seizures | – | Absent seizures |
Psychomotor delay | Moderate intellectual disability | Moderate intellectual disability | Mild intellectual disability | – | – | – | – | – | – | Normal at the age of 18 months | Motor and speech delay | Developmental delay | – | – |
Congenital malformations | Atrial septal defect, hypoplastic left pulmonary artery, and main bronchus | – | Cleft palate | – | – | – | – | – | – | – | – | Left kidney agenesia Intrauterine growth retardation | – | – |
Others | Microcephaly | Migraine | Migraine | Short stature | Exercise intolerance | Failure to thrive Fatty liver | Microcephaly | |||||||