Wax-Like Lipid Storage Disease
What is Wax-Like Lipid Storage Disease
The wax-like lipid storage disease is the normal accumulation of lipids in the blood and tissues is not accompanied by the typical clinical manifestations of the syndrome.
Symptoms of Wax-Like Lipid Storage Disease
Wax-like lipid storage disease recession characterized by convulsions, blindness and progressive smart. 4 type: infantile those 8 months onset, progressive development 2-3 years of age; late infantile onset at 2-4 years, 2-3 years, death; 5-8 years old juvenile onset, 14 -l7-year-old death; adult type onset of puberty, and can live to middle age. Showed decreased vision, mental retardation, seizures, speech disorder, cerebral paralysis, disturbance of consciousness.
What Causes Wax-Like Lipid Storage Disease
The wax-like lipid storage disease was the AR genetic, a small number of AD genetic.
Tests and Diagnosis for Wax-Like Lipid Storage Disease
Wax-like lipid storage disease differential diagnosis:
The wax-like lipid storage disease and the identification of the following diseases:
A sphingolipid storage disease
(A) cerebroside storage disease
Gaucher (1882) first reported, also known as (Gaucher disease (Gaucher di-sease) or glucose sheath hydrogen the alcohol storage disease (glucosylceramide lipidosis).
(B) sphingomyelin storage disease
First reported by Niemann (1914) and of Pick (1927). Sphingomyelin in the body organs, gall bladder with alcohol and other lipid deposition, hepatosplenomegaly and smart recession characterized. Also known as the phosphorylcholine sphingosine storage disease (phosphoryl-choline ceramidosis) or Niemann-Pick disease.
(C) ball-like cell leukodystrophy
First reported by Krabbe (19l6), rare, due to the lack of galactose glucocerebrosidase, also known as Krabbe disease (Krabbe disease).
(Iv) ceramide trihexyl glucosidase storage disease
Reported by A11derson (1898) and Fabry (1898), also known as Fabry disease (Fabry disease).
(V) sulfuric acid Gaucher disease
First reported by Alzheimer (19l0), also known as metachromatic white matter dystrophy (the metachromatic leukodystrophy MLD). Infant morbidity rate is about 2.5 × 10-5.
Second, ganglioside wax-like lipid storage disease
Ganglioside sugar sphingolipid (glycosphingolipid), containing a hydrophobic ceramide, and a hydrophilic oligosaccharide chains conjugated together with one or several of N-acyl-neuraminic acid (N-adcylneuraminic acid), sialic acid ( sia an IC is acid). Accordance with the the Svennerholm coding system: G stands for ganglioside; A, M, D and T respectively represent free and containing 1, 2, 3 sialic acid units; alkylene index l, 2 and 3 respectively represent the four glycosyl ceramide ( tetraglycosylcer-amide), the trihexyl glucosidase Ceramide (trihexoside ceramide) and of galactosylceramide (lactosylcerarmide). Ganglioside mainly in the plasma membrane of nerve endings and dendrites, with a combination of toxins and endocrine function, for lysosomal permanent lyase degradation, degradation or synthetic barriers pathogenic.
Familial xanthoma associated with adrenal calcification
Abramov (1956) reported one case, to hepatosplenomegaly, the the ceroid lipoidosis patients bloating and adrenal calcification is characterized by rare.
Familial lipoprotein deficiency
Bassen-Korazweig (1950) first reported, also known as the the Bassen-Kornzw-eig disease.
V. adrenal white matter malnutrition
Also known as Addison one Schilder disease (Addison-Schilder disease), by B1aw (1970) first reported.
VI fat granulomatous disease
Also known as Farber disease (Farber disease) or neuraminidase deficiency (ceramidase deficiency).
Seven, yellow fibromatosis
Also known as Hand-Schuller-Christian disease or charge lipid histiocytosis.