Inherited metabolic disorders causing acrocyanosis also include fucosidosis
, hyperoxaluria Type I, congenital disorder of glycosylation and mitochondrial disorders with onset in early infancy and multisystem involvement.
At 2 years of age, comprehensive screening for metabolic disorders was completed including mannosidosis, fucosidosis
, metachromatic leukodystrophy, Sandhoff disease, lysosomal storage diseases, GM1 gangliosidosis, Krabbe disease, and mucopolysaccharidosis (types 13 and 6).
The starting set of [sup.1]H-NMR data, in terms of chemical shifts and coupling constants could be collected and verified thanks to the availability of so many partial structures of glycoprotein-glycans isolated from the urine of patients with inborn errors of glycan-metabolism like oligomannosidosis, sialidosis, fucosidosis
Brooke Harvey, from Carrickfergus, Co Antrim, was two when doctors diagnosed her with fucosidosis
Deficiency of mammalian alpha-L- fucosidases has been proved to cause the fucosidosis
which results in the lethal accumulation of glycoproteins and fucosylated glycosphingolipids in the nervous system (Delves 1998).
Widespread angiokeratomas also occur in patients with several additional enzyme deficiencies, which include a-fucosidase (fucosidosis
), neuraminidase (sialodosis), aspartylglucosaminidase (aspartylglucosaminuria), AY-mannosidase (AY- mannosidosis), a-N-acetylgalactosaminidase (Kanski disease), and AY-galactosidase (adult- onset GM1 gangliosidosis).13 Also, ACD may occur without recognizable enzyme deficiency,3,4 or as benign form without systemic features,5 or normal physical, mental development and with skin lesions alone.6
is a very rare autosomal-recessive LSD due to the deficiency of [alpha]-L-fucosidase.
Disorders of glycoprotein degradation and structure: a-mannosidosis, P-mannosidosis, fucosidosis
, sialidosis, aspartylglucosaminuria and carbohydrate-deficient glycoprotein syndrome.
The systemic form of angiokeratoma is associated with Fabry disease and fucosidosis
. There are several localized forms.
Amegakaryocytic thrombocytopenia (n:2), Fucosidosis
(n:1), Evan's syndrome (n:1), Diamond-Blackfan syndrome (n:1) Note: Table made from pie chart.
Genetic conditions often present at birth (all are rare conditions) & which are associated with hereditary fibromatosis include I-cell disease, mucopolysaccharidoses, fucosidosis
, aspartyl glucosaminuria, Pfeiffer's syndrome, infantile systemic hyalinosis, & primary amyloidosis.