Cases Symptoms + Test+Etiology

Front 1

Vomiting, Poor weight gain, Poor feeding, Jaundice, Convulsions, Irritability, Lethargy

Back 1

Galactosemia

Test: Urine test for detection of galactokinase, uridyl transferase, UDP Galactose Epimerase

Front 2

blood pH is low (7.2) with an increased anion gap (>19).

Back 2

Metabolic Acidosis

Front 3

vasoocclusive painful crisis, hemolytic anemia, hematuria, low HCT

Back 3

Sickle Cell

– mutation in Hb gene for b globin --> hydrophilic Glu replaced by hydrophobic Val, causing RBC to become rigid and form abnormal sickle shape; aggregate in deoxygenated state and get caught in small blood vessels

sickle solubility test (add RBC to reducing solution), Hb electrophoresis (separate Hb by weight), blood smear reveals Howell-Jolly bodies* (this is the one Dr. Ho emphasized at the review session), prenatal testing

Front 4

Physical examination shows microphiallia (penis is small
for age), cryptorchidism (testes located in the inguinal canal bilaterally) and
hypospadias (urinary meatus lies in the perineum). The boy has normal blood
pressure. A blood test of hormone levels shows a marked decrease of reduced
dihydrotestosterone (DHT) and normal testosterone levels with an elevated
teststerone to DHT ratio, and a normal ration of testosterone to estrogen

Back 4

5- alpha reductase deficiency

5-Alpha-reductase is an enzyme that converts testosterone to dihydrotestosterone (DHT) in
peripheral tissues. 5-Alpha-reductase deficiency-2 is biochemically characterized by low to low-normal levels of testosterone and decreased levels of 5α-DHT, creating a higher testosterone/DHT ratio.

In patients with 5-alpha-reductase deficiency who are raised as male, testosterone or dihydrotestosterone (DHT) therapy may increase penile length.

In patients with 5-alpha-reductase deficiency who are raised female, estrogen replacement therapy should be initiated at a bone age of 12 years or once an increase in gonadotropins is observe

Front 5

Angina pectoris (chest pains) usually aggravated by elevated physically activity, xanthomas (cholesterol deposits under skin, particularly in the Achilles tendon

Back 5

Familial Hypercholesterolemia
Homozygous Familial Hypercholesterolemia cant be treated with statin..new liver needed

Dominant mutation of LDL receptor or trafficking constituent (clathrin, ApoB100 binding site, etc) that prevents uptake of cholesterol from blood

Blood test: LDL > 300mg/dL (heterozygous); > 600mg/dL (homozygous); genetic screen of LDL receptor or ApoB protein (most common mutation locations).

Front 6

asymptomatic until triglyceride levels are extremely high, may be obese and/or diabetic and present w/ acute pancreatitis, high level of triglycerides produce lipemia retinalis (white appearanceof retina), eruptive xanthomas (fatty deposits on skin from triglycerides accumulating in foam cells).

Back 6

Hypertriglyceridemia

autosomal dominant mutation in lipoprotein lipase results in abnormally high VLDL levels and triglycerides

Lab/diagnosis – triglyceride serum (200-500 mg/dL) levels,
Family history is very important as this is a genetic disease

Front 7

Lethargy, weakness, persistent anemia (BUT unresponsive to B12, folic acid, iron, Vit. C). Probably a child with low weight BUT no neurological symptoms.

Back 7

Orotic Aciduria

-Could be deficiency in UMP synthase, which is neccesary for pyrimidine synthesis
-Could be a deficiency in Urea Carbomyl Phosphate build up

Blood Tests: CBC shows Megaloblastic anemia, elevated MCV. Also see increased orotic acid excretion and orotic acid crystal formation.

Front 8

: stretchy skin, hypermobilization of joints, the vascular type might result in aneurysms.

Back 8

Ehlers-Danlos Syndrome; impaired collagen synthesis because don’t have lysyl-hydroxylase and pro-collagen peptidase (collagen synthesis processing enzymes).

Tests:
-DNA testing (can be prenatal), skin test (collagen abnormalities), ultrasound (for mitral valve prolapse

Front 9

Alcoholic, , Ophthalmophlegia, ataxia, psychosis with memory loss, retro-grade amnesia

Back 9

Wernicke-Korakoff Syndrome

Thiamine (vitamin B1) deficiency. Often found in alcoholics, because alcohol is known to inhibit active absorption of thiamine. Thiamine is a water-soluble vitamin used as a cofactor (thiamine pyrophosphate, TPP) in enzymatic reactions involving transfer of an aldehyde group. , therefore don’t use transketolase (activity decreased of this Pentose Phosphate Pathway Enzyme), therefore cant make NADP, therefore Acetyl CoA decreases and NADPH decreases.

erythrocyte transketolase activity in the presence and absence of added TPP. Increased transketolase activity indicates thiamine deficiency. Serum B1(Thiamine) will be low, low transketolase activity, macrocytic anemia, pyruvate high.

Front 10

: polydispia (thirst), polyuria (increased urination), clear urine, dehydration (therefore headache, dry mouth, dizziness).

Back 10

Diabetes Insipidus

Et: deficiency of ADH due to damage destruction of posterior pituitary and is cranial, therefore no water reabsorption

Diagnosis: Urinalysis shows low urine osmolarity. Blood tests show high sodium (hypernatremia) and other abnormal electrolyte levels. Water deprivation test can distinguish the type of DI. Fluid intake is stopped and ADH is later administered. If urine is more concentrated, excessive urination stops, and blood pressure rises, it’s hypothalamic. If excessive urination still occurs, urine is dilute, and blood pressure doesn’t change, it’s nephrogenic

Front 11

liver disease, neurological abnormalities, symptoms are indistinct and often mistaken for other causes, 95% of patients who present w/neurological symptoms will also have Kayser-Fleischer rings in cornea, clumsiness, fatigue, drooling/difficulty swallowing, loss of appetite, jaundice, presents in late childhood

Back 11

Wilson’s Disease

Autosomal recessive loss-of-function mutation in ATP 7B gene, defect in biliary Cu excretion, leads to copper accumulation in the liver because it cannot be released into the bloodstream, low ceruloplasmin levels, high urinary copper, high liver copper

Front 12

Seizures, musty smell of urine, MR, young foreign children from eastern european countryà blond hair and blue eyes

Back 12

autosomal recessive; phenylalanine hydroxylase deficiency (PAH). When PAH is deficient, phenylalanine cannot be converted to tyrosine (which can be converted to fumarate, acetyl CoA, melanin, catecholamines and thyroid hormones ). Phe accumulates and is converted into phenylpyruvate (aka phenylketone) instead, which is detected in the urine.

high serum phenylalanine, low serum tyrosine (because phenyalanine àtyrosine, but the enzyme for this reaction is defective.
Neonatal Screeening: Guthrie Card Test with phenylalanine growing on bacteria.This tests consists of a blood stain placed on a card, which is then grown in Bacillus Subtilis (which requires Phe) to grow. Growth of bacteria on the blood stain indicates presence of Phe and a positive test for PKU

Front 13

Jaundice, Icterus (yellow in whites of eyes--begins a few days after birth and progressively gets worse), kernicterus (neuro impairment due to bilirubin toxicity--confusion and changes in thinking) high blood bilirubin level, often presents in neonates

Back 13

Crigler-Najjar Syndrome

Lack UDP-glucuronyl transferases (UGT) leading to inability to solubilize bilirubin, therefore it backs up into the serum and jaundice ensues.

General methods: measure of unconjugated bilirubin via blood test; reduced UGT levels in hepatic tissue; CNS 1 and 2: CNS 1-bilirubin serum levels between 310-755 micromoles/L; CNS 2-bilirubin serum levels between 100-430 micromoles/L.

Front 14

Photosensitivity blisters and erosions on exposed surface of the skin, associated with chronic alcohol intake.

Back 14

deficiency of uroporphyrinogen decarboxylase (UROD) in the synthesis of heme. Blisters are from porphyrin build up in the skin.

Look for blisters, Urine lab test. High uroporphyrinogen in the urine

Front 15

difficulty breathing, feeding; muscle weakness, enlarged liver and heart, heart failure). Late-onset may strike as late as adulthood and symptoms are more mild than in infancy.

Back 15

Pompe

Autosomal reccesive metabolic disorder caused by deficiency in a(1-4)-glucosidase required for degradation of glycogen.

Enzyme assay test revealing deficient GAA activity. Test tissue (muscle, skin) or blood sample to verify low/absent GAA enzyme activity. Infantile-onset patients generally display <1% of the normal enzyme activity levels in skin cells; late-onset patients generally display <40% of the normal enzyme activity levels in skin cells

Front 16

Hyponatremia, hypoosmolality, weakness, fatigue (lethargy),decreased urinary output, irritability, confusion, seizures. Coma.

Back 16

SIADH

Opiate use can cause the nonosmotic excessive release of ADH, thus increasing the body's H20 reabsorption and leading to hyponatremia.

Normal plasma [Na+] = 140 mEq/L. Hyponatremia: < 135 mEq/L. Check serum levels of ADH and renin. In this case, low/normal level of renin but high level of ADH will verify opium as the culprit

Front 17

male develops severe, compulsive, uncontrollable destructuve hehavior
including irregular amputation of fingers and biting of lips. The parents also notices of
crystalluria.

Back 17

Lesh-Nyhan

X linked mutation of HPGTR gene. This leads to low IMP and GMP and high PRPP.So Purine salvage pathway is messed up so you get accumulation of uric acid which causes gout

The physical exam should show over-exaggerated reflexes and spasticity. Biopsy of the skin should show decreased levels of the HGPRT enzyme. Finally, blood and urine tests should reveal increased levels of uric acid

Front 18

18) A 30-year-old female patient complains about shortness of breath even at rest. She has
experience recent weight loss and recurring upper respiratory tract infections. You find
out that the patient is a non-smoker. Physical examination, listening to the breathing,
indicates decreased breath sounds bilaterally with retardation of expiratory flow. You
order a chest x-ray and pulmonary function tests. The results show no lung cancer but
destruction of alveolar walls and airflow obstruction.

Back 18

: alpha-1-antitrypsin inhibits neutrophil elastase. Liver pathology can also result form alpha-1-antitrypsin deficiency.

. AAT deficiency is determined from testing the amount of AAT in the serum. If it is low, then this confirms the diagnosis, and further AAT protein phenotyping and AAT genotyping should be carried out

Front 19

weight loss w/o appetite decrease, anxiety, nervousness, tachycardia, hypertension, heart palpitations, sweaty palms, warm skin, enlargement of thyroid gland (goiter), protruding eyes (exophthalmos)

Back 19

Grave's Disease

Autoimmune disease due to immunoglobulins binding to TSH receptor on thyroid follicular cells and stimulating thyroid hormone production, resulting in hyperthyroidism (Graves disease is the most common cause of hyperthyroidism.)

Low TSH (thyroid stimulating hormone) levels due to negative feedback, increased T3, T4 (thyroxine), and free T4 index, high uptake of radioactive iodine

Front 20

Night blindess which preceeds tunnel vision. Patients become blind by age 40/50 and retain some sight most of their lives

Back 20

Retinitis Pigmentosa

Most common form of inherited retinal degeneration leading to degeneration of photoreceptive cells. Multiple gene mutations; of importance is the mutation of the rhodopsin gene, a pigment which enables vision in low light environments. This leads to progressive loss of vision.

Main sign is presence of dark deposits in the retina.retinal cone cells are damaged the most.

Front 21

Acute onset of visual loss, first in one eye, and then a few weeks to months later in the other. Onset is usually young adulthood, but age range at onset from 8-60 is reported. Examination reveals decreased visual acuity, loss of color vision and a cecocentral scotoma on visual field examination.

Back 21

LEBER’S HEREDITARY OPTIC NEUROPATHY
Inheritance: This disease is a mitochondrial disease. It is a mitochondrially inherited (mother to all offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision;Mitochondrially inherited. Passes from mother to child. You can see variable severity in phenotype depending on how many bad mitochondria each child gets from mom

Front 22

A newborn infant boy has severe respiratory problems and is treated with surfactant. He
is observed in the ICU for a week showing developmental problem in the muscle and the
brain. A liver biopsy reveals a very low level of acetyl-CoA carboxylase activity, but
normal activities in glycolysis, gluconeogenesis, oxidative phosphorylation and pentose

Back 22

Neonatal Respiratory Distress syndrome.
The fact that his glycolysis, gluconeogenesis, etc are fine suggests his liver is generally working, but the low level of acetyl-CoA carboxylase activity means he has trouble synthesizing fatty acids. Acetyl-CoA carboxylase (ACC) catalyzes acetyl CoA carboxylation to make MALONYL-COA. Malonyl-CoA inhibits the transfer of fatty acid acyl groups to carnitine, and when this occurs, beta oxidation will decrease in mitochondria

Front 23

A newborn boy develops vomiting and electrolyte imbalance with a low serum sodium
concentration and a high serum potassium. Physical examination discovers the new
born has ambiguous genitalia. Karyotyping of genetic variation shows normal 23 pair
with XY chromosomes.

Back 23

17-hydroxylase deficiency

Ambiguous genitalia (no androgens)Low Na and High K (means no aldosterone);. This implies it’s a congenital adrenal hyperplasia where cortisol is being made, but aldosterone and androgens aren’t. Likely to be

Front 24

: Short stature (dwarfism), coarse, elongated facial features, mental disability, eye clouding (corneal opacities), enlarged heart, liver, and spleen

Back 24

Hurler Syndrome

Build up of glycosaminoglycans (heparin sulfate, dermatan sulfate) due to deficiency of alpha-L iduronidase Genetic disease

High levels of dermatan sulfate and heparan sulfate in the urine, alpha-L-iduronidase deficiency in WBCs

Front 25

25) A 10-year-old boy developed sever sunburn after spending a day at the beach. His skin
showed freckles and lesions on the exposed areas of the face and arms. These
symptoms continued a week after initial skin breakdown. A CBC shows normal blood
counts. His urine is normal in color.

Back 25

Xeroderma pigmentosa

unable to repair thymidine dimers. the skin gets very thin and patches of varying color (splotchy pigmentation) appear.
The condition also causes spidery blood vessels in the skin (telangiectasia) and skin cancer.