TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (TPID)

Question 1

What is  TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (TPID)?

Accepted Answer

rare
autosomal recessive
mutation in the TPI1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Triosephosphat-Isomerase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615512

Question 4

Which enzymes are involved?

Accepted Answer

triosephosphate isomerase

Disease	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (TPID)
OMIM	615512 OMIM = Online Mendelian Inheritance of Men
Orphanet	868
Protein (UniProt)	triosephosphate isomerase
ExPASy	5.3.1.1
Gene locus	12p13.31
ICD	D55.2
Summary	rare autosomal recessive mutation in the TPI1 gene
Laboratory findings	Dihydroxyacetone-phosphate inc (erythrocytes) Hemoglobine dec (blood) Triosephosphate isomerase dec (erythrocytes)
Symptoms	abnormal movement anemia cardiomyopathy dystonia early death hemolysis hemolytic anemia hypertonia, spasticity hyporeflexia hypotonia infections (respiratory tract/system) intellectual disability/intellectual developmental disorder jaundice muscle atrophy muscle weakness onset, infancy onset, neonatal peripheral neuropathy progressive neurologic defect respiratory insufficiency seizures tremor or twitching