What is EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 (EIEE51)?

rare autosomal recessive utation in the MDH2 gene

Which enzymes are involved?

Malate dehydrogenase, mitochondrial

Disease	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 (EIEE51)
OMIM	617339 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Malate dehydrogenase, mitochondrial
Gene locus	7q11.23
ICD
Summary	rare autosomal recessive utation in the MDH2 gene
Laboratory findings	Citric acid inc (urine) Fumaric acid inc (urine) L-Lactic acid inc (blood) L-Lactic acid inc (cerebrospinal fluid) Malic acid inc (urine)
Symptoms	abnormal movement cerebellar atrophy or hypoplasia constipation dystonia early death encephalopathy epilepsy failure to thrive feeding difficulties, poor feeding hyporeflexia hypotonia inverted nipples lactic acidosis muscle atrophy muscle weakness onset, infancy onset, neonatal pyramidal signs retinitis pigmentosa seizures speech development, delayed, abnormal strabismus