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31 Cards in this Set
- Front
- Back
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AA Diseases
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PKU
Alkaptonuria Albinism Homocystinuria Cystinuria Maple Syrup Urine Disease |
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Phenylketonuria
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**Normally, phenylalanine is converted into TYROSINE (nonessential aa)
=in PKU, there is a DECREASED phenylalanine hydroxylase or tetrahydrobiopterin cofactor THUS, tyrosine becomes ESSENTIAL and phenylalanine builds up = excess phenylketones in urine AUTOSOMAL RECESSIVE (1:10,000) |
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Findings in PKU:
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**MR, growth retardation
**Pale skin, eczema **Musty body odor SCREENED FOR AT BIRTH |
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Treatment:
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DECREASE intake of phenylalanine
=contained in aspartame (i.e. NutraSweet) INCREASE intake of TYROSINE |
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Alkaptonuria (Onchronosis)
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**Congenital deficiency of HOMOGENISTIC ACID OXIDASE in the degradative path of tyrosine
=result in alkapton bodies that cause urine to turn black on standing =CT also dark =may cause debilitating ARTHRALGIAS BENIGN |
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Albinism
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**Congenital Deficiency of:
1) Tyrosinase =inability to synthesize melanin from tyrosine (AR) 2) Defective tyrosine transporters =decreased amounts of tyrosine and thus melanin |
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Pathogenesis?
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**May result from lack of migration of NC cells
=lack of melanin --> SKIN CANCER |
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Homocystinuria
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**3 Forms--all AR
1) Cystathionine Synthase Deficiency =decrese Met and increase Cys in diet 2) Decreased affinity of cystathionine synthase for pyridoxal phosphate =increase vitamin B6 in diet 3) Methionine synthase deficiency |
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Findings
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**Results in excess homocysteine in the urine
=i.e. cysteine becomes essential **Can find: =MR =osteoporosis, kyphosis, tall stature =lens subluxation (DOWN AND IN) =atherosclerosis (stroke and MI) |
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Cystinuria
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**COMMON (1:7,000) inherited defect of the renal tubular amino acid transporter in the kidneys for COLA:
1) Cystine 2) Ornithine 3) Lysine 4) Arginine |
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Treatment:
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**Excecss cystine in urine can lead to the pt of CYSTINE KIDNEY STONES
=i.e. alkalinize the urine w/ acetazolamide to treat |
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Maple Syrup Urine Disease
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**Block degradation of BRANCHED amino acids = Ile, Val, Leu due to DECREASED alpha-ketoacid dehydrogenase
=causes INCREASED alpha ketoacids in the blood--esp. leucine |
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Presentation:
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**Urine smells like maple syrup
=severe CNS defects =MR =death |
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Lysosomal Storage Diseases
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**Each is caused by a DEFICIENCY in one of many lysosomal enzymes
**Can be: 1) Sphingoliposes 2) Mucopolysaccharidoses =Hurler's Syndrome =Hunter's Syndrome **All are AR EXCEPT for Fabry's and Hunters |
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Fabry's Disease: Findings
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XR
=peripheral neuropathy of hands and feet =angiokeratomas =CV/renal disease |
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Deficient Enzyme
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**alpha-galactosidase A
THUS, Ceramide trihexoside builds up |
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Gaucher's Disease: Presentation
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**MOST COMMON**
=Hepatosplenomegaly =aseptic necrosis of the femur =bone crises =Gaucher's cells (macrophages) |
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Deficient Enzyme
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**B-glucocerebrosidase
THUS, Glucocerebroside builds up |
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Niemann-Pick Disease
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**Progressive neurodegeneration
**Hepatosplenomegaly **Cherry-red spot on the macula |
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Deficient Enzyme
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**Sphingomyelinase
Sphingomyelin builds up |
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Tay-Sachs
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**Progressive neurodegeneration
**Developmental delay **Cherry red spot **Lysozymes w/ onion skin NO HEPATOSPENOMEGALY |
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Deficient Enzyme
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**Hexosaminidase A
=GM2 ganglioside |
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Krabbe's Disease
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**Peripheral neuropathy
**Developmental delay **Optic atrophy |
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Deficient Enzyme
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**B-galactosidase
=Galactocerebroside |
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Metachromatic Leukodystrophy
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**Central and peripheral DEMYELINATION w/ ataxia
**dementia |
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Deficient Enzyme
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**Arylsulfatase A
=cerebroside sulfate |
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Hurler's Syndrome
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**Developmental delay
**Gargoylism **Airway obstruction **Corneal clouding |
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Deficient Enzyme
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**alpha-L-iduronidase
=heparan sulfate, dermatan sulfate |
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Hunter's Syndrome
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**Mild Hurler's + aggressive behavior
NO CORNEAL CLOUDING recall: XR |
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Deficient Enzyme:
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**Iduronate sulfatase
=heparan sulfate, dermatan sulfate |
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Which diseases have an increased incidence in Ashkenazi Jews?
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=Tay-Sachs
=Neimann-Pick =some forms of Gaucher's |
