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Lysosomal Diseases

Lysosomal Storage Disease

Lysosome Nz basics ? * Made in the endoplasmic reticulum and stored in the golgi to be used in the breakdown of cellular products.... when not stored properly, that is when we see issues
Glycogen Storage Disease Basics ? * deficiency of one of the enzymes involved in the synthesis or sequential degradation of glycogen.... * results in low glucose for energy production
Von Gierke Disease ? * deficiency of glucose-6-phosphatase and an example of the hepatic form of glycogenoses....Causes the liver to not be able to degrade glycogen, and causes a glycogen build up in the liver, along with hypoglycemia.... Get enlargement of liver and kidneys
Von Gierke Disease Histologically we see ? * hepatocytes demonstrate clear cells in the cytoplasm that contain glycogen
McArdle Disease ? * deficiency of muscle phosphorylase, so can not break down glycogen in muscles.... *see muscle cramps after exercise, with an absent rise in lactate levels bc of the block in glycolysis
McArdle Disease Histology ? * muscle biopsy specimens reveal numerous subsarcolemmal and central vacuoles that stain positive for PAS and Siryus red
Pompe Disease ? * Deficiency of acid maltase leads to lysosomal storage of glycogen in all organs, but cardiomegaly is the most prominent feature
What we see in Pompe Disease ? * inherited autosomal recessive disorder that presents in the first few months of life with cardiomegaly, hypotonia, cardiomyopathy, respiratory distress, muscle weakness, feeding difficulty and failure to thrive.
Pompe Disease life span ? * There is abnormal glycogen storage in many organs which leads to death early in life (by 2 yrs old).
Sphingolipidoses ? * group of inherited disorders of lipid metabolism..... usu autosomal recessive and effect the CNS in children..... *we see y characterized by diffuse and progressive involvement of neurons in the gray matter with psychomotor retardation and myoclonus
Tay-Sachs Disease ? * common disease and results from mutations in the a-subunit locus on chromosome 15 that cause a severe deficiency of hexosaminidase A..... * get accumulation of GM2 gangliosides.... *
Tay-Sachs Disease what we see ? * . Since hexosaminidase A is absent from all tissues, GM2 ganglioside accumulates in many tissues including the heart, liver and spleen. However, it is the involvement of the neurons of the CNS, ANS and retina that dominates the clinical picture
Tay-Sachs Disease histo ? * neurons are ballooned with cytoplasmic vacuoles, distended lysosomes filled with ganglioside. Oil Red O stain and Sudan Black B are positive in these cells. Electron micrographs reveal whorled, onion-like cytoplasmic inclusions within lysosomes.
Tay-Sachs Disease in the brain ? * There is progressive destruction of neurons, gliosis and accumulation of complex lipids in microglia within the brain. This process also occurs in the cerebellum, basal ganglia, brainstem, spinal cord, dorsal root ganglia and ANS
Tay-Sachs and the eye ? * get a cherry red spot
What we see Cx with a baby with Tay-Sachs ? * normal at birth but about 6 months of age, they develop relentless motor and mental deterioration, beginning with motor incoordination, mental obtundation (muscular flaccidity, blindness) & dementia. A vegetative state is reached and death by 2 - 3 y/o
Sulfatidoses basics ? * These diseases are caused by a deficiency of sulfatase enzymes..... *Some of the characteristics include coarse facial features, ichthyosis, hepatosplenomegaly, skeletal abnormalities, progressive wasting and death early in life
Niemann-Pick Disease, Types A and B ? *These disorders are related and both are characterized by lysosomal accumulation of sphingomyelin due to a deficiency of sphingomyelinase.....*both common in Jews like Tay-Sachs
Niemann-Pick Disease Type A ? *severe infantile form that has extensive neurologic issues & visceral accumulations of sphingomyelin & progressive wasting with death in the first 3 years of life..... *due to a missense mutation and get complete absence of sphingomyelinase
Niemann-Pick Disease Type B ? *have organomegaly but generally no CNS involvement and can survive into adulthood.
Niemann-Pick histo ? * cells to appear foamy, These vasuoles stain positive for fat with Oil Red O stain. Electron microscopy depicts engorged secondary lysosomes that often contain membranous cytoplasmic bodies resembling concentric lamellated myelin---“zebra” bodies
Niemann-Pick on brain and organs ? * spleen and liver enlargement , wide sulci and shrunken gyri, can see cherry red spot in eye in 1/3 of pts.
Niemann-Pick Type A at birth ? * patients have manifestations at birth, with a protuberant abdomen by 6 months of age. Once clinical signs appear there is rapid progression of the disease with death in the first or second year of life.
Niemann-Pick Disease, Type C basics ? *s more common than types A & B, and has mutations in two related genes, NPC1 and NPC2..... * a primary defect in lipid transport and affected cells accumulate cholesterol and gangliosides
NPC1 and NPC2 ? * are involved in transport of free cholesterol from lysosomes to the cytoplasm
NPC Cx Appearance ? * s hydrops fetalis and stillbirth, neonatal hepatitis, or a chronic form of progressive neurologic damage. Most commonly, NPC presents in childhood as ataxia, vertical supranuclear gaze palsy, dystonia, dysarthria and psychomotor regression
Gaucher Disease ? * result from a mutation in the gene that encodes glucocerebrosidase.....* Gaucher disease is the most common type of lysosomal storage disorder
Gaucher Disease pathology ? * Glucocerebrosidase usu cleaves the glucose residue from ceremide. The Nz defects result in accumulation of gulcocerebroside in the phagocytes & also in the CNS... *also get activation of macrophages & the secretion of cytokines, IL-1, IL-6 and TNF
Type I Gaucher Disease ? *chronic form that manifests in adulthood, has low levels of glucocerebrosidase and limited phagocytes in the body. Splenic & skeletal issues predominate & get cytopenias, bone pain with pathologic fractures. Lifespan may be shortened in this type.
Type II Gaucher Disease ? *the acute neuronopathic form that manifests in infancy, has no detectable glucocerebrosidase activity and is dominated by progressive CNS involvement leading to death at an early age
Type III Gaucher Disease ? *intermediate between types I and II
Gaucher Disease what we see histologically ? *phagocytic cells are markedly enlarged and contain a fibrillary type of cytoplasm likened to crumpled tissue paper... *These cells are PAS+ and electron microscopy reveals elongated, distended lysosomes containing stored lipid in stacks of bilayers
How neurons get destroyed in gaucher Types I and II ? *the cytokines secreted by the phagocytic cells surrounding the neurons result in damage and death of the neurons
Mucopolysaccharidoses (MPS) basics ? * Mucopolysaccahrides are long-chain complex carbohydrates that are linked with proteins to form proteoglycans... *The glycosaminoglycans that can accumulate in the MPSs are dermatan sulfate, heparan sulfate, keratan sulfate and chondroitin sulfate
MPSs inheritance pattern ? * All the MPSs are inherited as an autosomal recessive.... EXCEPT Hunters Syndrome, X-linked recessive disorder
In general, MPSs are progressive disorders with ? * coarse facial features, clouding of the cornea, joint stiffness and mental retardation.... *Hepatosplenomegaly, skeletal deformities, valvular lesions, subendothelial arterial deposits in coronary arteries, and brain lesions are common to most MPSs
Hurler Syndrome basics ? * Also called MPS I-H, Hurler syndrome results from a deficiency of a-I-iduronidase.... *affects kids, that are normal at birth and show Sx at 6-24 mths
Cx Sx kids get in Hurlers Syndrome ? * hepatosplenomeagly and Growth is retarded, they develop coarse facial features and skeletal deformities and death ensues by age 6-10 years, often due to cardiovascular complications
Hunter Syndrome basics ? * Also known as MPS II, Hurler syndrome is inherited as an X-linked disorder with absence of corneal clouding and a milder clinical course.
Alkaptonuria (Ochronosis) gentics? * first human inborn error of metabolism discovered and it is an autosomal recessive disorder... *The Nz homogentisic oxidase converts homogentisic acid to methylacetoacetic acid in the tyrosine degradation pathway. This Nz is lacking or defective and h
Alkaptonuria (Ochronosis) Nz ? * The Nz homogentisic oxidase converts homogentisic acid to methylacetoacetic acid in the tyrosine degradation pathway. This Nz is lacking or defective and homogentisic acid accumulates.
Alkaptonuria (Ochronosis) Cx Sx ? * black color to urine.... *retained homogentisic acid binds to collagen in connective tissues, tendons and cartilage, imparting a blue-black pigment most evident in the ears, nose and cheeks...*Affect Vertebral discs
Alkaptonuria (Ochronosis) lifespan ? * Clinically, the defect is present from birth but the degenerative arthritis develops slowly and is not evident until the 30s. Alkaptonuria is not a life-threatening disease but it can be a crippling illness.
Created by: thamrick800