PHOSPHOSERINE PHOSPHATASE DEFICIENCY (PSPH)

Question 1

What is  PHOSPHOSERINE PHOSPHATASE DEFICIENCY (PSPH)?

Accepted Answer

very rare
autosomal recessive
mutation in the PSPH gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

3-Phosphoserin-Phosphatase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614023

Question 4

Which enzymes are involved?

Accepted Answer

phosphoserine phosphatase

Disease	PHOSPHOSERINE PHOSPHATASE DEFICIENCY (PSPH)
Synonym	PSPHD
OMIM	614023 OMIM = Online Mendelian Inheritance of Men
Orphanet	79350
Protein (UniProt)	phosphoserine phosphatase
ExPASy	3.1.3.3
Gene locus	7p11.2
ICD	E72.8
Summary	very rare autosomal recessive mutation in the PSPH gene
Laboratory findings	Glycine dec (plasma) L-Serine dec (plasma) L-Serine dec (cerebrospinal fluid)
Symptoms	cerebral atrophy EEG abnormalities [-] growth retardation, poor growth intellectual disability/intellectual developmental disorder microcephaly (<2 SD for age) motor retardation neuropathy onset, infancy psychomotor retardation seizures