FANCONI RENOTUBULAR SYNDROME 3; FRTS3

Question 1

What is  FANCONI RENOTUBULAR SYNDROME 3; FRTS3?

Accepted Answer

very rare

autosomal dominant

mutation in the EHHADH gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 615605

Question 3

Which enzymes are involved?

Accepted Answer

Peroxisomal bifunctional enzyme

Disease	FANCONI RENOTUBULAR SYNDROME 3; FRTS3
OMIM	615605 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Peroxisomal bifunctional enzyme
Gene locus	3q27.2
ICD
Summary	very rare autosomal dominant mutation in the EHHADH gene
Laboratory findings	D-Glucose inc (urine) Protein inc (urine)
Symptoms	aminoaciduria Fanconi syndrome glucosuria growth retardation, poor growth limb abnormalities, limb deformities metabolic acidosis onset, childhood proteinuria rickets short stature