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Amino acid metabolism
Nitrogen and urea cycle
Citric acid cycle
Electron transport chain and oxidative phosphorylation
Pentose phosphate pathway
Physiological changes during exercise
Fatty acid oxidation
Fatty acid synthesis
Ketone body metabolism
Maple syrup urine disease
Ornithine transcarbamylase deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hereditary fructose intolerance
Pyruvate dehydrogenase deficiency
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Fabry disease (NORD)
Gaucher disease (NORD)
Metachromatic leukodystrophy (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Tay-Sachs disease (NORD)
Disorders of amino acid metabolism: Pathology review
Disorders of carbohydrate metabolism: Pathology review
Disorders of fatty acid metabolism: Pathology review
Dyslipidemias: Pathology review
Glycogen storage disorders: Pathology review
Lysosomal storage disorders: Pathology review
Niemann-Pick disease types A and B (NORD)
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Niemann-Pick disease p. 86
Niemann-Pick disease type A and type B, or NPD-A and NPD-B, which are subtypes of acid sphingomyelinase or ASM deficiency, are rare, genetically inherited conditions characterized by the inability to break down a fat called sphingomyelin due to a deficiency of the enzyme, acid sphingomyelinase.
There’s also Niemann-Pick disease type C, which is known to be caused by mutations in the genes NPC1 and NPC2, and is therefore considered to be distinct from types A and B.
Sphingomyelin is a fat that's included in the membrane of many different cells.
They contain organelles called lysosomes that are said to function as recycling centers because they break down large, potentially harmful substances to be reused by the body.
They break down sphingomyelin by using an enzyme called acid sphingomyelinase, which is a product of the sphingomyelin phosphodiesterase 1, or SMPD1 gene.
In Niemann-Pick disease types A and B, there’s a mutation in the SMPD1 gene that causes a defect in the production of sphingomyelinase, leading to an inability to break down sphingomyelin.
In NPD-A there’s almost a complete absence of sphingomyelinase activity, while NPD-B has some residual sphingomyelinase activity remaining.
The macrophages develop a characteristic lipid-laden appearance under microscopes and are called “foam cells.”
Sphingomyelin can also build up in other cell types in the body, reflecting impaired intracellular recycling of membranes and damaged organelles in lysosomes due to sphingomyelinase deficiency.
Signs and symptoms of NPD-A present early in life, and are usually life-threatening.
Niemann-Pick disease (NPD) type A and type B, are rare inherited conditions characterized by the inability to break down sphingomyelin, due to a deficiency of the enzyme acid sphingomyelinase. Niemann-Pick disease type A and type B result from SMPD1 gene mutation, which normally encodes to sphingomyelinase enzyme.
NPD-A symptoms present early in life and may include hepatosplenomegaly, jaundice, feeding difficulties, and progressive loss of reflexes and muscle tone. It is also often associated with a cherry red spot � in the eye, which affects the macula and impairs central vision. Usually, NPD-A becomes fatal by the age of 3 years old.
On the other hand, NPD-B represents a less severe condition that typically does not include neurologic involvement, and can develop at any time in life. Common NPD-B symptoms include progressive splenomegaly, which causes low serum platelet and white blood cell levels, high cholesterol, and declining lung function. There is no cure for NPA and NPB, and treatment is supportive and focuses on managing symptoms.
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