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53 Cards in this Set

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Disorders preset as: hypoketotic hypoglycemia, hypotonia, cardiomyopathy, SIDS death
Fatty Acid Oxidation Defects
Disorders present as: Hepatomegaly, hypoglycemia, lactic acidosis, failure to thrive
Glycogen Storage Diseases
Disorders present as: Lactic acidosis, seizures, cardiomyopathy, hypotonia/myopathy, +/- hypoglycemia
Mitochondrial Disorders
Disorders present as: Dysmorphic/coarse features, severe bone dysplasia, neurological signs/symptoms
Complex Molecule Defects
Vomiting, irritability, eczematoid rash, mousy/musty odor, fair hair and skin, abnormal EEG
FTT, hepatomegaly, hepatoblastoma, NO mental retardation, RTA resembles Fanconi syndrome, xray findings of rickets, treat with NTBC
Tyrosinemia Type I
Corneal ulcers, dendritic keratitis, red papular or keratotic lesions on palms/soles, 50% have mental retardation
Tyrosinemia Type II
Deficiency in homogentisic acid, urine alkalinizes causing oxidation of homogentisic acid, pigement deposition in ears and sclerae as adults
Feeding difficulties, irregular respirations, loss of Moro reflex, seizures, opisthotonos, and rigidity, defect in oxidative decarboxylation of ketoacids
Maple Syrup Urine Disease
Diagnose by finding increased leucine, isoleucine, and valine in plasma and urine, finding alloisolucine is diagnostic
Maple Syrup Urine Disease
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
Glutaric Aciduria Type I
Marfinoid habitus, cystathionine beta synthetase deficiency, developmental delay, lens dislocation, increased risk of thromboembolism
Only urea cycle defect that has X-linked inheritance
Ornithine Transcarbamoylase Deficiency
Elevated ammonia, mild or no liver dysfunction, no ketoacidosis, low BUN, respiratory alkalosis, NO metabolic acidosis, precipitated by injury/stress, low plasma arginine
Urea Cycle Defects
Citrulline levels are absent or low in which urea cycle defects? Why?
OTC and CPS, they occur proximally in the cycle
Orotic acid level is elevated in which disorder?
Severe ketoacidosis with or without hyperammonemia, encephalopathy, vomiting, bone marrow depression, cardiomyopathy occurs later
Propionic Acidemia
Alopecia, skin rash, encephalopathy, if untreated can develop seizures, hearing loss, and blindness, elevated 3-methylcrotonylglycine, 3-hydroxyisovaleric acid, and lactic acid
Multiple Carboxylase Deficiency
Hyperammonemia, ketoacidosis, thrombocytopenia, chronic ketotic hyperglycemia, vomiting, FTT, renal failure, cardiomyopathy
Methylmalonic Acidemias
Hepatomeglay, FTT, hypoglycemia, seizures, fat cheeks, thin extremities, short stature, protuberant abdomen, hypertrophied kidneys, labs show hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia, 2 types
Type I Glycogen Storage Disease (G6PD, von Gierke's)
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
Type 1b
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
Type III Glycogen Storage Disease (Debrancher Deficiency)
Cirrhosis, hepatomegaly, FTT in first 18 months, deficiency of branching enzyme leading to glycogen resembling amylopectin
Type IV Glycogen Storage Disease (Branching Enzyme Deficiency, Andersen Disease)
AR defect in glucose transporter 2 gene proximal rental tubular dysfunction, accumulation of glycogen in liver and kidney, consaguineous parents
Type IX Glycogen Storage Disease (Fanconi-Bickel Syndrome)
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
Type V Glycogen Storage Disease (McArdle Disease)
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
Type VII Glycogen Storage Disease (Tarui Disease)
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
Type II Glycogen Storage Disease (Pompe Disease)
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
Pts with galactosemia are at increased risk of sepsis with what organism?
E. coli
Long term effects of this disorder: ovarian failure, amenorrhea, dev delay, learning disabilities, speech disorders
Jaundice, hepatomegaly, vomiting, lethargy, seizures, irritability, prolonged clotting time, low albumin, elevated bili and transaminases, proximal tubular dysfxn, later onset
Hereditary Fructose Intolerance
Defect in gluconeogenesis found on chromosome 9, severe episodes of metabolic acidosis, hypoglycemia, hyperventilation, seizures, and coma
Fructose 1,6-diphosphatase Deficiency
Triad of ptosis, opthalmoplegia, and ragged-red fiber myopathy, can have multi-system disease including cardiomyopathies, DM, cerebellar ataxia, deafness
Myopathy, ataxia, cardiomyopathy, DM, cerebellar ataxia,stroke
Hypoactive or absent deep tendon reflexes, ataxia, corticospinal tract dysfunction, impaired vibratory/proprioceptive fxn, hypertrophic cardiomyopathy, DM
Friedrich Ataxia
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
MPS I (Hurler Syndrome)
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
MPS II (Hunter Syndrome)
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)
MPS III (Sanfilippo Syndrome)
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
MPS IV (Morquio Syndrome)
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
Niemann-Pick Disease
beta-hexosaminidase alpha-subunit deficiency, enhanced startle reflex, axial hypotonia, extremity hypertonia, hyperreflexia, cherry red spot, macrocephaly, seizures, frequent pneumonias
Tay-Sachs - Infantile Form
Ashkenazi Jews most commonly, clumsy/awkward child, intention tremor, dysarthria, proximal muscle weakness with fasciculations and atrophy, psych symptoms
Tay-Sachs - Juvenile/Adult Form
Most common lysosomal storage disease, deficiency of lysosomal glucocerebrosidase, splenomegaly, bone lesions, thrombocytopenia, type 1 without CNS involvement
Gaucher Disease
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
Fabry Disease
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
Zellweger Syndrome
3-10 yrs, central demyelination, adrenal insufficiency, elevated plasma very long chain fatty acid levels
X-Linked Adrenoleukodystrophy
X-linked, impaired copper uptake with low copper and ceruloplasmin levels, neurologic deterioration, seizures, loss of milestones, kinky hair
Menkes Disease
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
Smith-Lemli-Opitz Syndrome
Deficiency of HMB-synthetase, exacerbated by drugs, low calorie diets, alcohol, steroids, sx include abdominal pain, ileus, peripheral neuropathy, hyponatremia due to SIADH
Acute Intermittent Porphyria
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
Porphyria Cutanea Tarda
Refractory hemolytic anemia, pallor, weakness, hypersplenism sideroblasts on BM studies, due to deficient activity of aminolevulinate (ALA) synthase
X-linked Sideroblastic Anemia
AD inheritance, skin photosensitivity without vesicle development, rare pigment changes, scarring, and hirsutism, pts generally have itching, burning, redness, and swelling
Erythropoietic Protoporphyria
X-linked, deficiency of HGPRT, normal at birth, by age 3-6 months dev FTT, emesis, irritability and later self mutilation
Lesch-Nyhan Disease