Biochemistry Genetics

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types of urine cycle defect

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carbamyl phosphere synthetase 1(CPS1)
ornithine transcarbamylase (OTC)
Argininosuccinate synthetase or citrullinemia type 1(ASS or CTLN1)
Argininosuccinate lyase (ASL)
Arginase (ARGI)
N-Acetyl glutamate synthase (NAGS)
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)
Citrullinemia Type 1 (CTLN1)

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X-linked disorders in urine cycle disorders

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ornithine transcarbamylase (OTC)

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the common findings of CPSI, OTC, ASS, ASL, NAGS

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hyperammonemia
ceral edema

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findings of OTC

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hyperammonemia
ceral edema
low citrullia and arginine levels
high orotic acid in urine

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clinical presentation of CPSI, OTC, ASS, ASL, NAGS

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neurology: encephalopathy, cerebal edema-associated respiratiory (primary respiratory alkalosis), seizures
digestive system:vomiting, anorexia, hepatomegaly
skin changes: acrodermatitis enteropathica(due to low arginine levels), dry and brittle hair for ASL

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what about female carriers with OTC?

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15% of female carriers with OTC have hyperammonemia due to radomn X inactivation.

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age of onset of OTC

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neonatal: normal at birth,2-3 days of life
late onset: may be triggered by infection or trauma.

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diagnosis of UCDs

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blood ammonia level
blood pH, CO2, the anion gap (<20), lactate, acylcarnitines,
plasma and urinary amimo acids, urinary organic acids including orotic acid

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defination of lysosomal disorder

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lysosomal disorders are caused by enzyme, enzyme activator, membrane transporter or membrane protein defects that result in abnormal accumulation of complex macromolecules normally degraded in lysosome.

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types of mucopolysaccharidoses

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hurler syndrome
scheie syndrome
hurler-scheie syndrome
hunter syndrome
sanfilippo syndrome type A-D
morquio syndrome A-B
maroteaux-lamy syndrome
sly syndrome
hyaluronidase deficiency

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clinic features of LDs

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coarse features
corneal clouding

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findings of hurler syndrome

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high urine dermatan and heparan sulfate
low alpha-L-iduronidase activity

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clinical presentation of Hurler syndrome

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mostly onset at childhood and adolescence.
coarsening features
short stature develop in childhood
progressive mental retardation
corneal clouding in infancy and progress
skeleton abnormalities (dysostosis multiplex)
joint limitation
hepatosplenomegaly

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findings of hunter syndrome

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high urine dermatan and heparan sulfate
low iduronate sulfatase activity

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clinical presentation of hunter syndrome

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coarsening feature(flat nose, depressed nasal bridge, enlarged tongue, low hairline)
progressive mental retardation
short statue in childhood
skeleton abnormalities (dysostosis multiplex, claw hand with broad and stubby fingers)
joint limitation
heptosplenomegaly
skin can appear pebbly

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the x-linked syndrome in LDs

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Hunter syndrome
Fabry disease
Danon disease

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treatment options for LDs

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enzyme replacement therapy
bone marrow transplatation
substrate-reduction therapy(small molecules that can cross the blood-brain barrier)

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clinical presentation of sanfilippo syndrome

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born as normal
childhood: coarse feature(depressed nasal bridge, thickened lips, hirsutism)
mild organmegaly
mental retardation
behavior problems

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clinical presentation of Morquio syndrome

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dwarfism with short trunk, scoliosis, and vertebral deformities.
hearing impairement
corneal clouding

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mutations for Tay-Sachs and Sandhoff disease

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Hex A and B deficiency
alfa unit of hexosaminidase
beta unit of hexosaminidase

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clinic diagnosis of Tay-Sachs disease

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progressive weakness and loss of motor skills between age 3-6 mo
decreased attentiveness
increased startle response
cherry red spot of retina
progressive neurodegeneration(seizures, blindness, spasticity)

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carrier frequency of Tay-Sachs disease in Jewish population

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1:30

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Gaucher disease belongs to which disorder group?

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lysosome disorders
sphingolipidoses

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how many types of Gaucher disease? What are they?

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5
type1, type2 (acute), type3 (subacute/chronic), perinatal-lethal, cardiovescular form

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diagnosis of Gaucher disease

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clinical findings:bone lesions, hepatosplenomegaly, hematologic changes(anemia, thrombocytopenia), lung disease, absent or present of primary central nervous system
assay of acid-beta-glucosylceramidase enzyme acitivity: low-confimatory diagnostic test
bone marrow examination: for hematologic changes
GBA gene testing: target mutation analysis (90%), and sequence analysis (99%)-confirmatory diagnostic test

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the carrier frequencies of Gaucher disease type 1 in Ashkenazi Jewish

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1:18

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fabry disease belongs to which disorder group?

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lysosome disorders
sphingolipidoses

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inheritance of fabry disease

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X linked

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diagnosis of fabry disease

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clinical diagnosis:extremity pain (acroparesthesias), vascular cutaneous lesions(angiokeratomas), hypohidrosis (absent sweating), corneal and lenticular opacities, stoke, left ventricular hypertrophy, renal insufficiency of unknown etiology
alpha-galactosidase A enzyme activity: low-most efficient and reliable for affected male
GLA gene testing: 100%

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clinic presentation of female carrier of fabry disease

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milder symptom of late onset

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definition of pompe disease

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also known as glycogen storage type II, AR disorder of glycogen metabolism caused by defects in the lysosomal enzyme.

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diagnosis of pompe disease

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clinical diagnosis:1.infantile onset:poor feeding/failure to thrive, motor delay/muscle weakness, respiratory concerns(infection/difficulty), cardiac problems. 2. late onset: proximal muscle weakness and respiratory insufficiency without cardiac involvement
acid alpha-glucosidase (GAA) enzyme activiy-diagnostic
GAA testing

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treatment of pompe disease

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ERT

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prenatal onset metabolic disorders

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zellweger disease

glutaric academia type II

smith-Lemli-Opitz

infantile refsum disease

rhizomelic chondradysplasia punctate

pyruvate dehydragenesis complex disease

carbohydrate deficient glycoprotein syndrome

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zellweger spectrum disorders including

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zellweger syndrome-most severe

neonatal adrenoleukodystrophy -intermediate

infantile refsum disease-least severe

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lesch-nyhan syndrome

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neurologic abnormalities:

cognitive and behavior abnormalities

overproduction of uric acid

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neurologic abnormalities of lesch-nyhan syndrome

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normal prenatal and perinatal

developmental delay in the first year, usually can't walk and end up in wheelchair

involuntary movement: dystonia, chorea, flailing of the limb (ballisms)

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cognitive and behavior abnormalities of lesch-nyhan syndrome

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self injury(lip and finger biting)-hallmark-within first year to few years

cognitively impaired

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overproduction of uric acid can cause what in lesch nyhan syndrome

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Occurs at birth

gout- not in childhood

kidney stones

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Testing strategy for Lesch nyhan syndrome

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HPRT enzyme activity

molecular testing-HPRT1 sequencing >90%, deletion

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inheritance pattern of lesch nyhan syndrome

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XR

mother with one son affected has 2/3 chance to be a carrier

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Trinucloid repeats disorder

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Fredristic ataxia

Fragile X

Huntington