SERINE DEFIENCY SYNDROME (NEW DISEASE?)

Question 1

What is  SERINE DEFIENCY SYNDROME (NEW DISEASE?)?

Accepted Answer

atypical presentation of a novel serine deficiency syndrome, no mutations in the 3PGDH, PSAT and PSP gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Serin-Mangel-Syndrom

Question 3

Which enzymes are involved?

Accepted Answer

novel serine synthesis defect?

Disease	SERINE DEFIENCY SYNDROME (NEW DISEASE?)
Gene locus
ICD	E72.8
Summary	atypical presentation of a novel serine deficiency syndrome, no mutations in the 3PGDH, PSAT and PSP gene
Laboratory findings	Glycine dec (plasma) L-Serine dec (plasma)
Symptoms	ataxia lethargy, drowsiness, apathy onset, adulthood speech difficulties