EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT

Question 1

What is  EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT?

Accepted Answer

rare

autosomal recessive

mutation in the PROSC gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Epilepsie, Pyridoxin-abhängige

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 617290

Question 4

Which enzymes are involved?

Accepted Answer

Pyridoxal phosphate homeostasis protein

Disease	EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
Synonym	PLPBP; PROSC
OMIM	617290 OMIM = Online Mendelian Inheritance of Men
Orphanet	3006
Protein (UniProt)	Pyridoxal phosphate homeostasis protein
Gene locus	8p11.23
ICD	G40.8
Summary	rare autosomal recessive mutation in the PROSC gene
Laboratory findings	L-Lactic acid normal/inc (plasma)
Symptoms	dysmorphism EEG abnormalities [-] epilepsy hypertonia, spasticity intellectual disability/intellectual developmental disorder lactic acidosis learning disability metabolic acidosis microcephaly (<2 SD for age) myoclonus onset, infancy onset, neonatal psychomotor retardation respiratory insufficiency seizures