3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (PHGDH)

Question 1

What is  3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (PHGDH)?

Accepted Answer

very rare
autosomal recesive
mutation in the PHGDH gene
disorder of L-serine biosynthesis

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Serin-Mangel-Syndrom; 3-Phosphoglyzerat-Dehydrogenase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 601815

Question 4

Which enzymes are involved?

Accepted Answer

D-3-phosphoglycerate dehydrogenase

Disease	3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (PHGDH)
Synonym	PHGDH DEFICIENCY
OMIM	601815 OMIM = Online Mendelian Inheritance of Men
Orphanet	35705
Protein (UniProt)	D-3-phosphoglycerate dehydrogenase
ExPASy	1.1.1.95
Gene locus	1q12
ICD	E72.8
Summary	very rare autosomal recesive mutation in the PHGDH gene disorder of L-serine biosynthesis
Laboratory findings	3-Phosphoglycerate dehydrogenase dec (fibroblasts) Glycine dec (cerebrospinal fluid) Glycine normal/dec (plasma) L-Serine dec (cerebrospinal fluid) L-Serine dec (plasma)
Symptoms	Amino acid, spinal fluid Amino acids, plasma anemia ataxia cataract EEG abnormalities [-] EEG: hypsarrhythmia [-] feeding difficulties, poor feeding growth retardation, poor growth hypertonia, spasticity hypogonadism megaloblastic anemia mental retardation microcephaly (<2 SD for age) motor retardation MRI, brain, abnormalities [-] nystagmus onset, infancy psychomotor retardation seizures spastic diplegia/quadriplegia/tetraplegia thrombopenia, thrombocytopenia West syndrome