HYPEROXALURIA, PRIMARY, TYPE III, PH3

Question 1

What is  HYPEROXALURIA, PRIMARY, TYPE III, PH3?

Accepted Answer

rare
autosomal recessive
mutation in the DHDPSL gene, HOGA1

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Primäre Hyperoxalurie Typ 3; PH3

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613616

Question 4

Which enzymes are involved?

Accepted Answer

4-hydroxy-2-oxoglutarate aldolase, mitochondrial

Disease	HYPEROXALURIA, PRIMARY, TYPE III, PH3
OMIM	613616 OMIM = Online Mendelian Inheritance of Men
Orphanet	93600
Protein (UniProt)	4-hydroxy-2-oxoglutarate aldolase, mitochondrial
ExPASy	4.1.3.16
Gene locus	10q24.2
ICD	E74.8
Summary	rare autosomal recessive mutation in the DHDPSL gene, HOGA1
Laboratory findings	4-Hydroxy-2-oxoglutaric acid inc (urine) 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 retinopathy urolithiasis, nephrolithiasis, kidney stones onset, adolescent onset, childhood onset, infancy onset, neonatal renal dysfunction, renal defects renal failure, chronic