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31 Cards in this Set

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AA Diseases
PKU
Alkaptonuria
Albinism
Homocystinuria
Cystinuria
Maple Syrup Urine Disease
Phenylketonuria
**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)
Findings in PKU:
**MR, growth retardation
**Pale skin, eczema
**Musty body odor

SCREENED FOR AT BIRTH
Treatment:
DECREASE intake of phenylalanine
=contained in aspartame (i.e. NutraSweet)

INCREASE intake of TYROSINE
Alkaptonuria (Onchronosis)
**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
Albinism
**Congenital Deficiency of:
1) Tyrosinase
=inability to synthesize melanin from tyrosine (AR)
2) Defective tyrosine transporters
=decreased amounts of tyrosine and thus melanin
Pathogenesis?
**May result from lack of migration of NC cells

=lack of melanin --> SKIN CANCER
Homocystinuria
**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
Findings
**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)
Cystinuria
**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
Treatment:
**Excecss cystine in urine can lead to the pt of CYSTINE KIDNEY STONES

=i.e. alkalinize the urine w/ acetazolamide to treat
Maple Syrup Urine Disease
**Block degradation of BRANCHED amino acids = Ile, Val, Leu due to DECREASED alpha-ketoacid dehydrogenase

=causes INCREASED alpha ketoacids in the blood--esp. leucine
Presentation:
**Urine smells like maple syrup

=severe CNS defects
=MR
=death
Lysosomal Storage Diseases
**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
Fabry's Disease: Findings
XR

=peripheral neuropathy of hands and feet
=angiokeratomas
=CV/renal disease
Deficient Enzyme
**alpha-galactosidase A

THUS, Ceramide trihexoside builds up
Gaucher's Disease: Presentation
**MOST COMMON**

=Hepatosplenomegaly
=aseptic necrosis of the femur
=bone crises
=Gaucher's cells (macrophages)
Deficient Enzyme
**B-glucocerebrosidase

THUS, Glucocerebroside builds up
Niemann-Pick Disease
**Progressive neurodegeneration

**Hepatosplenomegaly

**Cherry-red spot on the macula
Deficient Enzyme
**Sphingomyelinase

Sphingomyelin builds up
Tay-Sachs
**Progressive neurodegeneration

**Developmental delay

**Cherry red spot

**Lysozymes w/ onion skin

NO HEPATOSPENOMEGALY
Deficient Enzyme
**Hexosaminidase A

=GM2 ganglioside
Krabbe's Disease
**Peripheral neuropathy

**Developmental delay

**Optic atrophy
Deficient Enzyme
**B-galactosidase

=Galactocerebroside
Metachromatic Leukodystrophy
**Central and peripheral DEMYELINATION w/ ataxia

**dementia
Deficient Enzyme
**Arylsulfatase A

=cerebroside sulfate
Hurler's Syndrome
**Developmental delay

**Gargoylism

**Airway obstruction

**Corneal clouding
Deficient Enzyme
**alpha-L-iduronidase

=heparan sulfate, dermatan sulfate
Hunter's Syndrome
**Mild Hurler's + aggressive behavior

NO CORNEAL CLOUDING

recall: XR
Deficient Enzyme:
**Iduronate sulfatase

=heparan sulfate, dermatan sulfate
Which diseases have an increased incidence in Ashkenazi Jews?
=Tay-Sachs
=Neimann-Pick
=some forms of Gaucher's