PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY

Question 1

What is  PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY?

Accepted Answer

very rare
autosomal recessive
mutation in the PSAT1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Phosphoserin-Aminotransferase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 610992

Question 4

Which enzymes are involved?

Accepted Answer

phosphoserine aminotransferase

Disease	PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
Synonym	PSAT
OMIM	610992 OMIM = Online Mendelian Inheritance of Men
Orphanet	284417
Protein (UniProt)	phosphoserine aminotransferase
ExPASy	2.6.1.52
Gene locus	9q21.2
ICD	E72.8
Summary	very rare autosomal recessive mutation in the PSAT1 gene
Laboratory findings	Glycine dec (cerebrospinal fluid) Glycine dec (plasma) L-Serine dec (cerebrospinal fluid) L-Serine dec (plasma)
Symptoms	abnormal movement cerebellar atrophy or hypoplasia early death feeding difficulties, poor feeding hypertonia, spasticity microcephaly (<2 SD for age) MRI, brain, abnormalities [-] onset, infancy psychomotor retardation seizures