SEDOHEPTULOKINASE DEFICIENCY (SHPKD)

Question 1

What is  SEDOHEPTULOKINASE DEFICIENCY (SHPKD)?

Accepted Answer

very rare

autosomal recessive

mutation in the SHPK gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 612713

Question 3

Which enzymes are involved?

Accepted Answer

Sedoheptulokinase

Disease	SEDOHEPTULOKINASE DEFICIENCY (SHPKD)
OMIM	612713 OMIM = Online Mendelian Inheritance of Men
Orphanet	440713
Protein (UniProt)	Sedoheptulokinase
ExPASy	2.7.1.14
Gene locus	17p13.2
ICD
Summary	very rare autosomal recessive mutation in the SHPK gene
Laboratory findings	D-Arabitol inc (urine) Erythritol inc (urine) Sedoheptulose inc (urine)
Symptoms	anemia arthrogryposis diarrhea dysmorphism failure to thrive hypoglycemia onset, fetus onset, neonatal