Medstudy Metabolism

Front 1

Disorders preset as: hypoketotic hypoglycemia, hypotonia, cardiomyopathy, SIDS death

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Fatty Acid Oxidation Defects

Front 2

Disorders present as: Hepatomegaly, hypoglycemia, lactic acidosis, failure to thrive

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Glycogen Storage Diseases

Front 3

Disorders present as: Lactic acidosis, seizures, cardiomyopathy, hypotonia/myopathy, +/- hypoglycemia

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Mitochondrial Disorders

Front 4

Disorders present as: Dysmorphic/coarse features, severe bone dysplasia, neurological signs/symptoms

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Complex Molecule Defects

Front 5

Vomiting, irritability, eczematoid rash, mousy/musty odor, fair hair and skin, abnormal EEG

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Phenylketonuria

Front 6

FTT, hepatomegaly, hepatoblastoma, NO mental retardation, RTA resembles Fanconi syndrome, xray findings of rickets, treat with NTBC

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Tyrosinemia Type I

Front 7

Corneal ulcers, dendritic keratitis, red papular or keratotic lesions on palms/soles, 50% have mental retardation

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Tyrosinemia Type II

Front 8

Deficiency in homogentisic acid, urine alkalinizes causing oxidation of homogentisic acid, pigement deposition in ears and sclerae as adults

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Alkaptonuria

Front 9

Feeding difficulties, irregular respirations, loss of Moro reflex, seizures, opisthotonos, and rigidity, defect in oxidative decarboxylation of ketoacids

Back 9

Maple Syrup Urine Disease

Front 10

Diagnose by finding increased leucine, isoleucine, and valine in plasma and urine, finding alloisolucine is diagnostic

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Maple Syrup Urine Disease

Front 11

Macrocephalic at birth but normal development until dev febrile illness or stressor causing hypotonia/dystonia, causes subdural hematomas and retinal hemorrhages, urine organic acids show increased excretion of glutaric and 3-hydroxyglutaric acids

Back 11

Glutaric Aciduria Type I

Front 12

Marfinoid habitus, cystathionine beta synthetase deficiency, developmental delay, lens dislocation, increased risk of thromboembolism

Back 12

Homocystinuria

Front 13

Only urea cycle defect that has X-linked inheritance

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Ornithine Transcarbamoylase Deficiency

Front 14

Elevated ammonia, mild or no liver dysfunction, no ketoacidosis, low BUN, respiratory alkalosis, NO metabolic acidosis, precipitated by injury/stress, low plasma arginine

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Urea Cycle Defects

Front 15

Citrulline levels are absent or low in which urea cycle defects? Why?

Back 15

OTC and CPS, they occur proximally in the cycle

Front 16

Orotic acid level is elevated in which disorder?

Back 16

OTC

Front 17

Severe ketoacidosis with or without hyperammonemia, encephalopathy, vomiting, bone marrow depression, cardiomyopathy occurs later

Back 17

Propionic Acidemia

Front 18

Alopecia, skin rash, encephalopathy, if untreated can develop seizures, hearing loss, and blindness, elevated 3-methylcrotonylglycine, 3-hydroxyisovaleric acid, and lactic acid

Back 18

Multiple Carboxylase Deficiency

Front 19

Hyperammonemia, ketoacidosis, thrombocytopenia, chronic ketotic hyperglycemia, vomiting, FTT, renal failure, cardiomyopathy

Back 19

Methylmalonic Acidemias

Front 20

Hepatomeglay, FTT, hypoglycemia, seizures, fat cheeks, thin extremities, short stature, protuberant abdomen, hypertrophied kidneys, labs show hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia, 2 types

Back 20

Type I Glycogen Storage Disease (G6PD, von Gierke's)

Front 21

Which Type 1 (a or b) glycogen storage disease is associated with recurrent bacterial infections due to neutropenia and impaired neutrphil function, oral and mucosal ulcers

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Type 1b

Front 22

Hepatomegaly, hypoglycemia, short stature, skeletal myopathy, cardiomyopathy, deficiency of glycogen debranching enzyme, increased incidence in non-Ashkenazi Jews, type a has liver and muscle involvement, type b only has liver involvement

Back 22

Type III Glycogen Storage Disease (Debrancher Deficiency)

Front 23

Cirrhosis, hepatomegaly, FTT in first 18 months, deficiency of branching enzyme leading to glycogen resembling amylopectin

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Type IV Glycogen Storage Disease (Branching Enzyme Deficiency, Andersen Disease)

Front 24

AR defect in glucose transporter 2 gene proximal rental tubular dysfunction, accumulation of glycogen in liver and kidney, consaguineous parents

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Type IX Glycogen Storage Disease (Fanconi-Bickel Syndrome)

Front 25

Muscle phosphorylase deficiency, symptoms dev in 20s/30s, exercise induced muscle cramps, exercise intolerance, burgundy colored urine after exercise, CPK elevated at rest and increases after exercise, glucose before exercise helps

Back 25

Type V Glycogen Storage Disease (McArdle Disease)

Front 26

Muscle phosphofructokinase deficiency, Japanese or Ashkanazi Jewish descent, early onset of pain and fatigue with exercise, presents in childhood, hemolysis occurs, increased uric acid, exercise intolerance worse after carb loaded meal

Back 26

Type VII Glycogen Storage Disease (Tarui Disease)

Front 27

Deficiency in lysosomal acid alpha-1-4-glucosidase responsible for breakign down glycogen in lysosomes, glycogen accumulates in lysosomes, 3 forms (infantile, juvenile, adult), elevated CPK, AST, LDH

Back 27

Type II Glycogen Storage Disease (Pompe Disease)

Front 28

Deficiency of glacatose 1-phosphate uridyltransferase, galactose accumulates in kidney, liver, brain, sx include: jaundice, hepatosplenomegaly, hypoglycemia, irritability, vomiting, seizures, lethargy, FTT, vitreous hemorrhage, MR, cataracts, cirrhosis

Back 28

Galactosemia

Front 29

Pts with galactosemia are at increased risk of sepsis with what organism?

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E. coli

Front 30

Long term effects of this disorder: ovarian failure, amenorrhea, dev delay, learning disabilities, speech disorders

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Galactosemia

Front 31

Jaundice, hepatomegaly, vomiting, lethargy, seizures, irritability, prolonged clotting time, low albumin, elevated bili and transaminases, proximal tubular dysfxn, later onset

Back 31

Hereditary Fructose Intolerance

Front 32

Defect in gluconeogenesis found on chromosome 9, severe episodes of metabolic acidosis, hypoglycemia, hyperventilation, seizures, and coma

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Fructose 1,6-diphosphatase Deficiency

Front 33

Triad of ptosis, opthalmoplegia, and ragged-red fiber myopathy, can have multi-system disease including cardiomyopathies, DM, cerebellar ataxia, deafness

Back 33

Kearns-Sayre

Front 34

Myopathy, ataxia, cardiomyopathy, DM, cerebellar ataxia,stroke

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MELAS

Front 35

Hypoactive or absent deep tendon reflexes, ataxia, corticospinal tract dysfunction, impaired vibratory/proprioceptive fxn, hypertrophic cardiomyopathy, DM

Back 35

Friedrich Ataxia

Front 36

Defect in alpha-L-iduronidase, coarsened facial features, mid-face hypoplasia, large tongues, frequent URIs, inguinal/umbilical hernias, macrocephaly, hydrocephalus, bone abnormalities, eye problems, mental retardation

Back 36

MPS I (Hurler Syndrome)

Front 37

Defect in iduronate-2-sulfatase, x-linked, does not have corneal clouding, learning disabilities, middle ear disease, hernias, coarse facial appearance, diarrhea, joint stiffness, hepatosplenomagly, nodular rash around scapulae and extensor surfaces

Back 37

MPS II (Hunter Syndrome)

Front 38

Inability to catabolize heparan sulfate, age 4-5, severe CNS involvement with minimal somatic disease, triphasic (1: dev delay, recurrent UTIs, diarrhea, 2: hyperactivity and aggression, 3: swallowing dysfunction, vegetative state)

Back 38

MPS III (Sanfilippo Syndrome)

Front 39

Deficiency of galactose-6-sulfatase with degradation of keratan sulfate, short-trunk dwarfism, fine corneal deposits, skeletal dysplasia, normal intelligence, fixed hip flexion, genu valgum, pes planus, sternal protrusion, short neck

Back 39

MPS IV (Morquio Syndrome)

Front 40

Age 3-5, ataxia, hepatosplenomegaly, older pts will have poor school performance, impaired fine motor skills, cataplexy and narcolepsy are common, on exam: supranuclear, vertical gaze palsy, dysphagia

Back 40

Niemann-Pick Disease

Front 41

beta-hexosaminidase alpha-subunit deficiency, enhanced startle reflex, axial hypotonia, extremity hypertonia, hyperreflexia, cherry red spot, macrocephaly, seizures, frequent pneumonias

Back 41

Tay-Sachs - Infantile Form

Front 42

Ashkenazi Jews most commonly, clumsy/awkward child, intention tremor, dysarthria, proximal muscle weakness with fasciculations and atrophy, psych symptoms

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Tay-Sachs - Juvenile/Adult Form

Front 43

Most common lysosomal storage disease, deficiency of lysosomal glucocerebrosidase, splenomegaly, bone lesions, thrombocytopenia, type 1 without CNS involvement

Back 43

Gaucher Disease

Front 44

X-linked recessive, pain crises precipitated by heat, hypohidrosis, angiokeratoma, corneal opacities, renal disease, CAD, stroke, hemiparesis, vertigo, diplopia, nystagmus, HA, ataxia, memory loss, Maltese crosses in urine casts, deficiency of lysosomal alpha-galactosidase

Back 44

Fabry Disease

Front 45

High forehead, epicanthal folds, broad based nasal brige, anteverted nares, micrognathia, large anterior fontanelle, cataracts, pigmented retinopathy, hearing loss, vision loss, abnormal liver fxn, jaundice, calcific stippling, abnormalities in very long chain fatty acids

Back 45

Zellweger Syndrome

Front 46

3-10 yrs, central demyelination, adrenal insufficiency, elevated plasma very long chain fatty acid levels

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X-Linked Adrenoleukodystrophy

Front 47

X-linked, impaired copper uptake with low copper and ceruloplasmin levels, neurologic deterioration, seizures, loss of milestones, kinky hair

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Menkes Disease

Front 48

Microcephaly, broad nasal tip, hypertelorism, cleft palate, micrognathia, anteverted nostrils, ptosis, low set ears, narrow bifrontal diameter, abnormal thumbs, mental retardation, due to defect in cholesterol biosynthesis

Back 48

Smith-Lemli-Opitz Syndrome

Front 49

Deficiency of HMB-synthetase, exacerbated by drugs, low calorie diets, alcohol, steroids, sx include abdominal pain, ileus, peripheral neuropathy, hyponatremia due to SIADH

Back 49

Acute Intermittent Porphyria

Front 50

Deficiency of hepatic URO-decarboxylase, cutaneous photosensitivity leading to vesicles/bullae on sun exposed areas, miliea may precede/follow vesicles, hypertrichosis and hyperpigmentation are common, liver disease leading to hepatocellular carcinoma

Back 50

Porphyria Cutanea Tarda

Front 51

Refractory hemolytic anemia, pallor, weakness, hypersplenism sideroblasts on BM studies, due to deficient activity of aminolevulinate (ALA) synthase

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X-linked Sideroblastic Anemia

Front 52

AD inheritance, skin photosensitivity without vesicle development, rare pigment changes, scarring, and hirsutism, pts generally have itching, burning, redness, and swelling

Back 52

Erythropoietic Protoporphyria

Front 53

X-linked, deficiency of HGPRT, normal at birth, by age 3-6 months dev FTT, emesis, irritability and later self mutilation

Back 53

Lesch-Nyhan Disease