Met disroders Flashcards by Billie Roberts

Toxic accumulation of Fructose-1-phosphate in the Liver, Kidney and SI, causing cell death.

adolase B deficiency hereditary fructose intolerance

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chromosome 12 problem

PKU

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unusually light hair and skin when left untreted

PKU

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elevated plasma phenyalinine

PKU

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avoid aspartame

PKU

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neuro dysfunction due to loss of myelin

PKU

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inceased RBC - galactose 1 phostphate

GALT deficiency

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saproprotein

PKU tx in children and adults

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pegvaliase

PKU tx in adults only

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Autosomal recessive disorder with a deficiency in the enzyme that breaks down BCAAs.

maple syrup disease

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Leucine, isoleucine and valine

BCAA affected in maple syrup urine disease

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BCKDC deficiency

maple syrup disease MC enzyme deficiency

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excess of this BCAA causes neuro symptoms

leucine

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excess of this BCAA causes maple syrup like odor (burn caramel)

isoleucine

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tx:
switch to soy products
stop breastfeeding
avoid dairy/milk

galactosemia (GALT, GALK, GALE def)

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deficiency in PAH

PKU

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converts phenylalanine to tyrosine

PAH phenyalanine hydroxylase

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long term management includes yearly CBC, LFT, and opthamologic exams. as well as FSH, LH and estradiol for females.

galactosemia (GALT, GALK, GALE)
also would obtain RBC galactose-1-phosphate

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tx is complete avoidance of fructose AND sucrose

adolase B deficiency (hereditary fructose intolerance)

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3-30% residual enzyme deficiency of BCKDC

nonclassic Maple syrup urine disease

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<3% residual enzyme deficiency of BCKDC

classic Maple syrup urine disease

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presents with irritability, poor feeding, seizures, cerebral edema and death

classic maple syrup urine disease

s/s present within 48 hrs - 2 week

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delayed onset until childhood but exacerbated by physical stress. epigastric pain, comiting, hyperactivity, sleep disturbance

nonclassic maple syrup urine disease

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managed with strict protein restriction
trials of thiamine

Maple syrup urine disease

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when would you do hemodialysis with discontinued protein intake for 24-48 hours

metabolic decomponsation in maple syrup urine disease also would give glucose for calories and insulin to control BG

liver transplant

indicated as last resort for classic MSUD

Dysfunction of methionine formation , which results in a buildup of homocysteine.

homocystinuria

enzyme deficiency is cystathionine beta synthesis

homocystinuria

dislocated optic disks and mental retardation

homocytinuria MC presentation also presents w marfanoid habitus pes excavatum, carinatum or genu valgum

pes excavatum, carinatum or genu valgum

homocytinuria also presents w marfanoid habitus dislocated optic disks and mental retardation

elevated homocysteine and methionine in plasma/urine

homocystinuria

Betaine

helps convert homocysteine to methionine in homocystinuria can also use B6, 12 and folate supplement protein restriciton too

vitamin B6, B2 and folate supplementation as tx

homocytinuria with protein restriction can also use betaine

mutation in Hex A

Tay-Sachs

Breakdown of GM2 ganglioside done by which enzyme

Hex A therefore this is dealing with Tay-Sachs Dysfunction results in a buildup of this, resulting in neuronal destruction in the CNS.

exaggerated startle/moro reflex

tay sachs

cherry red spot on fundoscopy

tay sachs

death in children is often of pneumonia complications

Tay Sachs d/t diaphragm and muscle weakness

frequent respiratory infectoinsm behavioral problems and slow loss of motor/mental function

juvenile tay sachs (presents between 2-5)

patient presents with extensive hx of injuries due to falls in childhood, reports she was a "clumsy child" which worsened as she aged. she now reports onset of difficulty speaking (dysarthria) onset about a year ago that has worsened. she also has an extensive mental health hx. what is it.

adult onset Tay Sahcs clumsy child motor weakness in adolescence dysarthrai in adulthood mental health symptoms

Glucocerebrosidase (GCase) deficiency

Gaucher disease

breaks down its fatty chemical into glucose and ceramide (lipid/fat molecule)

Glucocerebrosidase (GCase)

bone fibrosis, osteopenia, HSM no CNS involvement slow progression normal life span

Gaucher disease type 1

All patients with this disease present with bone crisis

gaucher disease

Low beta-glucosidase leukocyte activity is diagnostic for what

gaucher

wrinkled tissue paper appearance of macrophages

gauchers disease resulting from GCase deficiency which increases macrophages

Substrate-reduction therapy (SRT) with eliglustat/miglustat

Gaucher disease also use enzyme replacement therapy with recombinant GCase

Alpha galactosidase A (GLA) deficiency

Fabry dissease

accumulation of globotriaosylceramide (GL3), fatty substance in blood vessels.

Fabry ddisease due to alpha galactosidase A deficiency

enzyme replacement therapy with imiglucerase

Frabry disease

narrows blood vessels leading to inadequate oxygen to tissues

fabry disease creates problesm with skin, kidneys, CNS and heart

angiokeratomas

Fabry disease

punctate dark red to blue black or flat or slightly raised lesions that are usually symmetric. DO NOT BLANCH MC in bathing suit area

angiokeratomas

hypo/anhidrosis and corneal lens opacity

fabry disease

decreased GLA enzyme activity as diagnostic, confirmed w genetic testing

Fabry

agalsidase beta (fabrazyme)

cornerstone of treatment for fabry disease

migalastat (galafold)

chaperone therapy for ADULTS with fabry disease

deficiency of sphingomyelinase (ASM) leading to accumulation of sphingomyelin in macrophages

Niemann Pick disease

Peripheral smear showing "foam" cells with a soap sud appearance

Neimann pick disease

a 5 mo old female presents with spasticity, failure to thrive and HSM. She also shows signs of lung disease such as hypoxemia and infiltrates on cxray. what are you considering as Dx

Niemann Pick A disease

Progressive HSM. Alveoli and pulmonary arteries show presents of foam cells. infiltrative lung disease also presnt

Niemann Pick B disease

neurologic disease that starts out as clumsiness, progresses to ataxia, dysphagia, dystonia, seizures. Death usually due to aspiration pneumonia

Niemann Pick C disease

supportive care only as tx: feeding tubes oxygen blood transfusions physical/occupational therapy

neimann Pick disease

Monitor: Platelets, LFT, PFT, CXR, Lipids and bone density

neimann pick disease

deficiency in Acid alfa glucosidase (GAA) causing inability to break down glycogen into glucose for energy

pompe disease

lysosome disease that also classifies as glycogen storage disease

Pompe disease

mutation on chromosome 17

Pompe disease

onset with a few months of birth causing hypotonia, cardiomyopathy, HSM death before age 1

classic infantile pompe disease

onset 12 months after birth delayed motor skills, resp dysfunction, cardiomegaly w/o HF

non classic infantile pompe disease

slow progressive muslce weakness that leads to respiratory failure at an older age

late onset pompe disease

acid alpha glucosidase enzyme levels decreased

pompe disease

can be confirmed with prenatal diagnosis of analysis, amniocentesis or CV sampling

pompe disease

phosphate absorption and excretion depends on the presence of what vitamin and what hormone

vit D PTH

causes of hyperphosphatemia

MC - CKD hypoparathyroid Vit D intoxication genetic tumoral calcinosis rhabdomyolisis and tumor lysis

calcium acetate

hyperphosphatemia

ianthanum carbonate

hyperphosphatemia in ESRD

sevelamer

hyperphosphatemia in ESRD on dialysis

used for energy transfer, storage and use. as well as fat/protein metabolism

mangesium

a disorder resulting in bone remodeling that typically begins with excessive bone resportion followed by increased bone formation

paget disease

oseto clast

Cut down

osteoblast

build up

weaker, larger, less compact and more vascular bones

paget disease

bone pain that is worse at night with bone deformity and excessive warmth

paget disease also seen w neurologic complications d/t bone compression of neuro sites

increased alkaline phosphatase and bone specific alkaline phosphatase

paget disease

lytic lesions on Xray

early and late onset paget disease. late will also show excessive bone formations

what is used to determine extent of pagent disease

radionucleotide scan

treated w alendronate, ibandronate, risedronate

these are bisphosphonates so this is paget disease also use ca and vit D supplement

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Met disroders Flashcards

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