GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE

Question 1

What is  GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE?

Accepted Answer

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 305920

Question 3

Which enzymes are involved?

Accepted Answer

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Disease	GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE
OMIM	305920 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
ExPASy	---
Gene locus	---
ICD	---
Summary	very rare
Laboratory findings
Symptoms	cerebral atrophy coarse facial features hypotonia nephrotic syndrome onset, childhood optic atrophy proteinuria renal dysfunction, renal defects seizures