NEU-LAXOVA SYNDROME 1; NLS1 (PHGDH)

Question 1

What is  NEU-LAXOVA SYNDROME 1; NLS1 (PHGDH)?

Accepted Answer

very rare
autosomal recessive
mutation in the PHGDH gene
serine biosynthesis defect, severe and lethal serine deficiency phenotype

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Neu-Laxova-Syndrom 1; 3-Phosphoglycerat-Dehydrogenase-Mangel, neonatale Form; PHGDH

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 256520

Question 4

Which enzymes are involved?

Accepted Answer

D-3-phosphoglycerate dehydrogenase

Disease	NEU-LAXOVA SYNDROME 1; NLS1 (PHGDH)
OMIM	256520 OMIM = Online Mendelian Inheritance of Men
Orphanet	2671
Protein (UniProt)	D-3-phosphoglycerate dehydrogenase
ExPASy	1.1.1.95
Gene locus	1p12
ICD	Q87.8
Summary	very rare autosomal recessive mutation in the PHGDH gene serine biosynthesis defect, severe and lethal serine deficiency phenotype
Laboratory findings	Glycine dec (cerebrospinal fluid) Glycine normal/dec (plasma) L-Serine normal/dec (plasma) L-Serine dec (cerebrospinal fluid)
Symptoms	anemia atrial septal defect cardiac involvement, cardiac defects cataract cerebellar atrophy or hypoplasia cleft lip cleft palate craniofacial anomalies cryptorchism dysmorphism early death edema EEG abnormalities [-] fetal akinesia/hypokinesia sequence hypertelorism ichthyosis lissencephaly microcephaly (<2 SD for age) microphthalmus MRI, brain, abnormalities [-] onset, fetus onset, neonatal polyhydramnion (maternal) pulmonary hypoplasia seizures skeletal changes, skeletal abnormalities small chin or micrognathia small for gestational age (SGA), intrauterine growth retardation (IUGR) syndactyly ventricular septal defect