G(M1)-GANGLIOSIDOSIS, TYPE I. PSEUDO-HURLER-DISEASE

Question 1

What is  G(M1)-GANGLIOSIDOSIS, TYPE I. PSEUDO-HURLER-DISEASE?

Accepted Answer

rare (1:250000)
autosomal recessive
- infantile form Type I
- late infantile/juvenile form Type II
- adult/chronic form Type III
typical dysmorphic expressions are not always obvious in infantile patients

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GM1-Gangliosidose Typ I; Beta-Galaktosidase 1-Mangel; Pseudo-Hurler-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 230500

Question 4

Which enzymes are involved?

Accepted Answer

Beta-galactosidase

Disease	G(M1)-GANGLIOSIDOSIS, TYPE I. PSEUDO-HURLER-DISEASE
Synonym	GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I
OMIM	230500 OMIM = Online Mendelian Inheritance of Men
Orphanet	354
Protein (UniProt)	Beta-galactosidase
Gene locus	3p22.3
ICD	E75.1
Summary	rare (1:250000) autosomal recessive - infantile form Type I - late infantile/juvenile form Type II - adult/chronic form Type III typical dysmorphic expressions are not always obvious in infantile patients
Laboratory findings	beta-Galactosidase dec (fibroblasts) beta-Galactosidase dec (leucocytes) D-Galactonic acid inc (urine) Foam cells, bone marrow (bone marrow) GM1-Ganglioside () Lymphocytes, vacuoles (blood) Oligosaccharides inc (urine)
Symptoms	leukodystrophy angiokeratoma broad forehead (wide) cardiomegaly cerebral atrophy cherry-red spot on retinal macula corneal clouding corneal deposits CT, brain, abnormalities [-] developmental delay dysmorphism early death failure to thrive flattened nose frontal bossing gingiva, hyperplastic growth retardation, poor growth hepatomegaly (large liver) hydrops fetalis hypertrichosis infections (respiratory tract/system) infections (severe or recurrent) low set ears macroglossia, large/protuding tongue mental retardation mongolian spots MRI, brain, abnormalities [-] onset, childhood onset, infancy optic atrophy progressive neurologic defect seizures skin, abnormal skin, thickened skoliosis, kyphoskoliosis splenomegaly (large spleen) teleangiectasia X-ray, abnormalities