HYPEROXALURIA, PRIMARY, TYPE II, PH2

Question 1

What is  HYPEROXALURIA, PRIMARY, TYPE II, PH2?

Accepted Answer

very rare (24 cases)
autosomal recessive
mutations in the GRHPR gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperoxalurie, primäre, Typ 2; D-Glycerat-Dehydrogenase-Mangel; PH2

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 260000

Question 4

Which enzymes are involved?

Accepted Answer

Glyoxylate reductase/hydroxypyruvate reductase

Disease	HYPEROXALURIA, PRIMARY, TYPE II, PH2
Synonym	OXALOSIS II; D-GLYCERATE DEHYDROGENASE DEFICIENCY
OMIM	260000 OMIM = Online Mendelian Inheritance of Men
Orphanet	93599
Protein (UniProt)	Glyoxylate reductase/hydroxypyruvate reductase
Gene locus	9q13.2
ICD	E74.8
Summary	very rare (24 cases) autosomal recessive mutations in the GRHPR gene
Laboratory findings	L-Glyceric acid inc (urine) Oxalic acid inc (plasma) Oxalic acid inc (urine)
Symptoms	bone fractures calcinosis cuti cardiomyopathy failure to thrive growth retardation, poor growth hematuria infections (urinary tract) nephrocalcinosis optic atrophy pain, bones or joints pancytopenia renal colic renal failure, acute/chronic renal failure, chronic retinopathy urolithiasis, nephrolithiasis, kidney stones onset, adolescent onset, childhood onset, infancy onset, neonatal