HOMOCARNOSINOSIS

Question 1

What is  HOMOCARNOSINOSIS?

Accepted Answer

very rare
autosomal recessive

Serum carnosinase deficiency and homocarnosinosis are probably the same disorder.

Homocarnosinosis is still a biochemical aberration with unknown clinical significance [Sjasstad O et al., 2018]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Homocarnosinose; Homocarnosinase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 236130

Question 4

Which enzymes are involved?

Accepted Answer

homocarnosinase

Disease	HOMOCARNOSINOSIS
OMIM	236130 OMIM = Online Mendelian Inheritance of Men
Orphanet	2168
Gene locus
ICD	E72.8
Summary	very rare autosomal recessive Serum carnosinase deficiency and homocarnosinosis are probably the same disorder. Homocarnosinosis is still a biochemical aberration with unknown clinical significance [Sjasstad O et al., 2018]
Laboratory findings	Homocarnosine inc (cerebrospinal fluid)
Symptoms	hypotonia mental retardation onset, childhood onset, infancy retinitis pigmentosa spastic diplegia/quadriplegia/tetraplegia