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genetic disease 2 Flashcards

1
Q

describe Alkaptonuria (ochronosis)

A
  • Autosomal recessive
  • Deficiency of HOMOGENTISIC ACID OXIDASE
  • causes Homogentisic acid accumulates as blue/black pigment which binds to collagen in connective tissue/tendons/cartilage
  • Excreted in urine –> urine turns BLACK if allowed to stand and oxidize, or upon adding alkali
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2
Q

Describe degenerative arthropathy

A
  • HOMOGENTISIC acid deposits in CARTILAGE of ARTICULAR SURFACES which turns to brittle and flakes
  • occurs in INTERVERTEBRAL DISCS, and later in knees, hips, shoulders
  • small joints are speared
  • may be crippling (severe osteoarthritis that occurs earlier in age)
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3
Q

Describe lysosomal storage disease

A
  • autosomal recessive
  • Failure of catabolism of large molecules WITHIN lysosomes due to lack of enzymes (various kinds), mutant inactive enzymes etc
  • can be put on enzyme replacement therapy
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4
Q

Describe Tay-Sachs disease

A
  • Gangliosidase deficiency due to FRAMESHIFT mutation in HexA gene
  • LACK of HEXOSAMINIDASE A leading to accumulaation of GM2ganglioside
  • often found in Ashkenazi Jew population
  • Ballooning of neurons (membranous concentric bodies)
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5
Q

what are the features of Tay Sach’s diseaase

A

TAYSACHS

  • Testing recommended
  • autosomal recessive
  • Young death (4 years)
  • Spot of Macula (cherry red spots)
  • Ashkenazi jews
  • CNS degeneration
  • Hex A deficiency
  • Storage disease
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6
Q

describe Cherry red spots

A
  • Cherry red spot on the Macula (spot is normal color, but the rest of retina is TOO WHITE due to lipid accumulation)
  • produced when ganglion cells (filled with lipid) degenerate, exposing the vascular choroidal tissue
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7
Q

Define Amaurotic idiocy

A
  • blindness (amaurosis) produced by retinal involvement, together with the mental deterioration produced by destruction of other neurons has given the disease the name amaurotic idiocy
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8
Q

describe Gaucher disease

A
  • Autosomal recessive
  • mutation in gene encoding enzyme Beta-Glucocerebrosidase (GBA) which functions in breaking down glucocerebroside into glucose and a fat called ceramide
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9
Q

Mononuclear phagocyte system

A
  • defect leads to accumulation of GLUCOSYLCERAMIDE in macrophages of the reticuloendothelial system (RES) and their subsequent enlargements
  • Gaucher cells form
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10
Q

Define Gaucher cells

A
  • Huge macrophages (bloated) with glucocerebroside
  • -> accumulates mostly in spleen, liver and bone marrow
  • cells appear like “weingkled tissue paper” or “crinkled cigarette paper”
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11
Q

describe The types of Guacher Disease

A
  • 3 Types:
  • -> Type I = adult type, common in ashkenazi jews and is NON-NEURONOPATHIC (compatible with long life)
  • -> Type II and III = rare but NEURONOPATHIC (II is most severe)
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12
Q

what are the clincial characteristics of Guachers disease

A
  • massively enlarged spleen
  • large liver and lymph nodes
  • Skeletal problems = excruciating bone pain and fractures due to marrow being packed with ever-expanding cells
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13
Q

what are the clincial characteristics of Guachers disease

A
  • massively enlarged spleen
  • large liver and lymph nodes
  • Skeletal problems = excruciating bone pain and fractures due to marrow being packed with ever-expanding cells
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14
Q

describe Type A niemann-Pick disease

A
  • MISSENSE MUTATION with almost total deficiency of the SPHINGOMYELINASE leading to SEVERE accumulation of SPHINGOMYELIN and CHolesterl in lysosome
  • -> results in foamy (vacuolated) cytoplasm (engorged lysosomes on EM with concentric lamellated myeling figures known as ZEBRA BODIES)
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15
Q

describe Type C niemann-pick disease

A
  • deficiency in cholesterol transport
  • not an enzyme defect
  • NPC1 and NPC2 gene mutations causing a defect in NONenzymatic lipid transport leading to accumulation of GM gangliosides (and free cholesterol) in lysosomes
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16
Q

describe the characteristics of Type A niemann-pick disease

A
  • severe deficiency of sphingomyelinase
  • accumulation of sphingomyelin
  • occurs in infants with early death (3 years
  • -* Neurologic signs = shrunkin gyri/widened sulci (cell death), retinal cherry red spot (like Tay-sachs)
    • Splenomegaly
  • hepatomegaly
  • enlarged lymph nodes
17
Q

describe the characteristics of Type B niemann-pick disease

A
  • sphingomyelinase deficiency
  • survive into adulthood
  • large livers and spleen
  • NO CNS invovlement
18
Q

describe the characteristics of Type C niemann-pick disease

A
  • Hydrops fetalis/ still birth
  • neonatal hepatitis
  • Chronic progressive NEUROLOGICAL DAMAGE
  • most common presentation in childhood = ataxia, vertical supranuclear gaze palsy, dystonia, dysarthria, psychomotor deterioration
19
Q

Describe MucoPolySaccharidoses (MPS)

A
  • deficient Lysosomal enzymes that degrade MUCOPOLYSACCHARIDES (cleave terminal sugars)
  • MPS accumulates in lysosomes of RES and smooth muscles
20
Q

Describe MucoPolySaccharidoses (MPS)

A
  • deficient Lysosomal enzymes that degrade GLYCOSAMINOGLYCANS (GAGs) leads to accumulation in tissues
  • CLINICAL FEATURES = skeletal abnormalties, corneal clouding, organomegaly, joint stiffness, hermias, short stature, mental retardation
  • Vacuolated lymphocytes in peripheral smear and excessive urinary GAGs are typical findings
21
Q

describe Hurler syndrome (MPS IH)

A
  • Autosomal recessive

- Deficiency in alpha-L-IDURONIDASE results in accumulation of DERMATAN SULFATE and HEPARAN SULFATE

22
Q

describe the clinical manifestations of HURLER SYNDROME (MPS IH)

A
  • affected individual appear normal at birth
  • exhibit accelerated growth in first year followed by slowing of growth leading to short stature
  • first 2 years, hepatosplenomegaly, corneal clouding, coarse facial features, large tongue, joint stiffness and characteristic skeletal abnormalities develop
  • progressive mental retardation, skeletal malformations and cardiopulmonary compromise typically lead to death during the first decade
23
Q

describe Hunter syndrome (MPS II)

A
  • deficiency in IDURONOSULFATE SULFATASE
  • clinically is similar to MPS IH
  • -> NO corneal clouding
  • -> symptoms range from severe CNS and visceral involvement with death to normal CNS function and survival into adulthood
24
Q

describe glycogen storage diseases

A
  • disorders affecting the synthesis or degradation of glycogen
  • characterized by abnormal deposits of glycogen in tissues
  • Autosomal recessive
  • GSD typically cause fasting hypoglycemia and hepatomegaly
25
Q

describe Type I GSD (Von Gierke disease

A
  • Defect in Hepatic Glucose-6-phosphatase or glucose-6-phosphatase translocase which leads to inadequate conversion of glucose-6-phosphate to glucose
  • accumulation of glycogen in liver and renal tubules and hypoglycemia
26
Q

describe clinical features of Type I GSD (Von Gierke disease)

A
  • enlarged liver, and kidney
  • hypoglycemia, lactic acidosis
  • hyperlipidemia and hyperuricemia
  • LATE COMPLICATIONS = hepatic adenomas and renal failure
  • Maintenance of blood glucose concentration with physiologic ranges allows favorable development
27
Q

describe Type V GSD (McArdle disease)

A
  • lack of muscle phosphorylase limits ATP generation by glycogenolysis and results in glycogen accumulation
  • diagnosis is indicated by ELEVATION in SERUM muscle CREATINE KINASE acivity and failure to increase lactate level with exercise
  • confirmed on elevated muscle glycogen and reduced phosphorylase activity
28
Q

describe the clinical features of Type V GSD

A

-

29
Q

describe Type I GSD (Von Gierke disease

A
  • Defect in HEPATIC Glucose-6-phosphatase or glucose-6-phosphatase translocase which leads to inadequate conversion of glucose-6-phosphate to glucose
  • accumulation of glycogen in liver and renal tubules and hypoglycemia
30
Q

describe Type V GSD (McArdle disease)

A
  • lack of MUSCLE phosphorylase limits ATP generation by glycogenolysis and results in glycogen accumulation
  • diagnosis is indicated by ELEVATION in SERUM muscle CREATINE KINASE acivity and failure to increase lactate level with exercise
  • confirmed on elevated muscle glycogen and reduced phosphorylase activity
31
Q

describe the clinical features of Type V GSD

A
  • Excercise intolerance with muscle cramps and myoglobinuria (secondary to rhabdomyolysis)
  • develop in late childhood or as an adult
  • Intense myoglobinuria may cause ACUTE RENAL FAILURE
32
Q

describe Type II GSD (pompe disease)

A
  • deficiency of ACID-ALPHA-1,4-GLUCOSIDASE (acid maltase) results in lysosomal accumulation of glycogen in heart, muscle, liver, and nervous system
  • Diagnosis is based on deficient enzyme activity in muscle, fibroblasts, amniotic cells or CVS and identifcation of mutations (SYSTEMIC)
33
Q

describe the clinical features of Pompe disease

A
  • infantile-onset form features cardiomegaly, HYPOTONIA and death prior to 2 years of age
  • Juvenile form presents as difficult walking in childhood followed by swallowing difficulties and muscle weakness
  • -> death from respiratory failure may occur before the end of 2nd decade
  • Adult form is slowly progressive muscle weakness with respiratory insufficiency

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