NEU-LAXOVA SYNDROME 2; NLS2 (PSAT)

Question 1

What is  NEU-LAXOVA SYNDROME 2; NLS2 (PSAT)?

Accepted Answer

rare
autosomal recessive
mutation in the PSAT1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Neu-Laxova-Syndrom 2; 3-Phosphoglycerat-Dehydrogenase-Mangel, neonatale Form; PSAT

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616038

Question 4

Which enzymes are involved?

Accepted Answer

Phosphoserine aminotransferase

Disease	NEU-LAXOVA SYNDROME 2; NLS2 (PSAT)
OMIM	616038 OMIM = Online Mendelian Inheritance of Men
Orphanet	2671
Protein (UniProt)	Phosphoserine aminotransferase
ExPASy	2.6.1.52
Gene locus	9q21.2
ICD	Q87.8
Summary	rare autosomal recessive mutation in the PSAT1 gene
Laboratory findings	L-Serine dec (plasma) L-Serine dec (cerebrospinal fluid)
Symptoms	cleft palate craniofacial anomalies dysmorphism early death fetal akinesia/hypokinesia sequence hypertelorism hypertonia, spasticity ichthyosis limb abnormalities, limb deformities low set ears microcephaly (<2 SD for age) MRI, brain, abnormalities [-] onset, fetus onset, neonatal seizures small chin or micrognathia small for gestational age (SGA), intrauterine growth retardation (IUGR)