EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50; EIEE50 (CAD)

Question 1

What is  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50; EIEE50 (CAD)?

Accepted Answer

very rare

autosomal recessive

mutation in the CAD gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 616457

Question 3

Which enzymes are involved?

Accepted Answer

CAD protein

Disease	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50; EIEE50 (CAD)
Synonym	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iz, FORMERLY
OMIM	616457 OMIM = Online Mendelian Inheritance of Men
Orphanet	448010
Protein (UniProt)	CAD protein
Gene locus	2p23.3
ICD	E77.8
Summary	very rare autosomal recessive mutation in the CAD gene
Laboratory findings	Ammonia normal/inc (blood)
Symptoms	altered consciousness, consciousness disturbance anemia cerebral atrophy early death encephalopathy epilepsy hyperammonemia hypotonia onset, childhood onset, infancy psychomotor retardation renal tubular acidosis seizures speech development, delayed, abnormal