Wax-Like Lipid Storage Disease

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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.

Treatments of Wax-Like Lipid Storage Disease