Term
|
Definition
| Mental retardation, growth retardation, seizures, fair skin, eczema, musty body odor |
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Term
| Diet: low phenylalanine, high tyrosine, if needed, give tetrahydrobiopterin cofactor |
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Definition
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Term
| INFANT OF WOMAN WITH IMPROPER TREATMENT FOR DKU |
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Definition
| Microcephaly, mental retardation, growth retardation, congenital heart defects |
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Term
|
Definition
| Deficiency of homogentistic acid oxidase |
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Term
|
Definition
| Dark connective tissue, pigmented sclera, urine turns black on standing |
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Term
|
Definition
Accumulation of homogentisic acid
Defect in tyrosine degradation pathway |
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Term
|
Definition
| Mode of inheritance of ocular albinism |
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Term
| Homocysteine methyltransferase OR cystathionine synthase |
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Definition
| Enzyme deficiencies in homocystinuria |
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Term
|
Definition
| Mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation, atherosclerosis (risk of early MI and/or stroke) |
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Term
|
Definition
| Precipitation of cystine kidney stones (cystine staghorn calculi) |
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Term
| Acetazolamide to alkalinize the urine |
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Definition
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Term
| MAPLE SYRUP URINE DISEASE |
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Definition
| Deficiency in alpha-ketoacid dehydrogenase causing increased alpha-ketoacids in the blood, especially leucine |
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Term
|
Definition
Defective neutral amino acid transporter on renal and intestinal epithelial cells
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Term
|
Definition
| Tryptophan excretion in the urine and impaired absorption from the gut |
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Term
|
Definition
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Term
|
Definition
| 1000-fold risk of developing skin cancer |
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Term
| PYRUVATE DEHYDROGENASE DEFICIENCY |
|
Definition
| Alcoholics > B1 deficiency > neurologic defects |
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Term
|
Definition
| Abnormal collagen type 1 synthesis |
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Term
|
Definition
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Term
|
Definition
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Term
|
Definition
| Defective excision repair > thymidine dimer formation |
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Term
|
Definition
| Deficiency of cystathionine synthase |
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Term
|
Definition
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Term
|
Definition
| Rx: no Nutrasweet, increased dietary tyrosine |
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Term
|
Definition
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Term
|
Definition
| Hyperextensible skin, loose joints, bleeding tendency |
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Term
|
Definition
| Decreased NADPH due to lack of HMP enzyme |
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Term
|
Definition
| Inherited defect in tubular amino acid transporter for cysteine, ornithine, lysine, arginine |
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Term
|
Definition
| Rx: decreased dietary methionine, increased cystine + B6 |
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Term
|
Definition
| Deficiency in homogenistic acid oxidase |
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Term
|
Definition
| Hypoglycemia + jaundice + cirrhosis |
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Term
|
Definition
| Self-mutilation, gout, aggression, choreoathetosis |
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Term
| MAPLE SYRUP URINE DISEASE |
|
Definition
| Blocked degradation of branched chain amino acids |
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Term
|
Definition
| Bloating, cramps, osmotic diarrhea |
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|
Term
|
Definition
| Rx: acetazolamide to alkalinize the urine |
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Term
|
Definition
| Deficiency results in a combined B and T cell deficiency |
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Term
|
Definition
| Rx: decreased fructose and sucrose intake |
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Term
| PYRUVATE DEHYDROGENASE DEFICIENCY |
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Definition
| Rx: increased intake of ketogenic nutrients (fats) |
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Term
|
Definition
| Dark brown urine, organs, and connective tissue; benign disease |
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Term
|
Definition
| Multiple fractures + blue sclera |
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Term
|
Definition
| Rx: exclude galactose and lactose from diet |
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Term
GAG
Glycine, Aspartate, Glutamine |
|
Definition
| Amino acids necessary for purine synthesis |
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Term
|
Definition
| Megaloblastic anemia that does not improve with administration of vitamin B12 or folix acid, failure to thrive |
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Term
| Inability to convert orotic acid to UMP |
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Definition
| Increased orotic acid in urine |
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|
Term
| Oral uridine administration |
|
Definition
| Treatment for orotic aciduria |
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Term
| Excess ATP and dATP imbalances nucleotide pool via feedback inhibition > prevents DNA synthesis > SCID |
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Definition
| Adenosine deaminase deficiency |
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Term
|
Definition
| Defective purine salvage due to HGPRT deficiency |
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Term
|
Definition
Excess uric acid production
Retardation, self-mutliation, aggression, hyperuricemia, gout, choreoathetosis |
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|
Term
Allopurinol
(blocks xanthine oxidase) |
|
Definition
| Treatment for Lesch-Nyhan syndrome |
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Term
|
Definition
| Amino acid encoded by only one codon |
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Term
|
Definition
| Mutation of nucleotide excision repair apparatus, which prevents repair of thymidine dimers |
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Term
|
Definition
| Dry skin with melanoma and other cancers, "children of the night" |
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|
Term
| Hereditary nonpolyposis colorectal cancer (HNPCC) |
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Definition
| Mutation in mismatch repair apparatus |
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Term
|
Definition
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|
Term
UGA = U Go Away
UAA = U Are Away
UAG = U Are Gone |
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Definition
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|
Term
1- Capping on 5' end
2- Plyadenylation on 3' end
3- Splicing out of introns |
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Definition
| RNA processing in nucleus |
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Term
|
Definition
| Site of synthesis of secretory proteins and of N-linked oligosaccharide addition to many proteins |
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Term
| Mucus-secreting goblet cells of small intestine and antibody-secreting plasma cells |
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Definition
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Term
|
Definition
| Site of steroid synthesis and detoxification of drugs and poisons |
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|
Term
| Liver hepatocytes and steroid hormone-producing cells of the adrenal cortex |
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Definition
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|
Term
Asparagine (N-oligosaccharides)
Serine and threonine (O-oligosaccharides) |
|
Definition
| Amino acids modified at Golgi apparatus |
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Term
|
Definition
| Coarse facial features, clouded corneas, restricted joint movement, high plasma levels of lysosomal enzymes |
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|
Term
| Failure of addition of mannose 6-phosphate to lysosome proteins, which end up secreted outside the cell instead of being targeted to lysosomes |
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Definition
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Term
|
Definition
| Microtubule polimerization defect resulting in decreased phagocytosis |
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Term
|
Definition
| Recurrent pyogenic infections, partial albinism, peripheral neuropathy |
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|
Term
| Connective tissue, used for sarcoma and some carcinomas |
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Definition
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|
Term
| Muscle used for rhabdo or leiomyosarcoma |
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Definition
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|
Term
| Epithelial cells used for carcionomas |
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Definition
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Term
|
Definition
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Term
|
Definition
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|
Term
"Strong collagen"
Bone, skin, tendon, dentin, fascia, cornea, late wound repair |
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Definition
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|
Term
"Slippery collagen"
Cartilage, vitreous body, nucleus pulposus |
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Definition
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|
Term
"Blood collagen" (reticulin)
Skin, blood vessels, uterus, fetal tissue, granulation tissue |
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Definition
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|
Term
|
Definition
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Term
|
Definition
| Hyperextensible skin, tendency to bleed (easy bruising), hypermobile joints |
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|
Term
| Joint dislocation, berry aneurysms, organ rupture |
|
Definition
| Ehlers-Danlos associations |
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Term
|
Definition
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Term
|
Definition
| Neither of 2 alleles is dominant |
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Term
|
Definition
| 2 patients with neurofibromatosis may have varying disease severity |
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Term
|
Definition
| Nature and severity of phenotype vary from 1 individual to another |
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Term
|
Definition
| Not all individuals with a mutant phenotype show the mutant phenotype |
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Term
|
Definition
| PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes |
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Term
|
Definition
| 1 gene has >1 effect on an individual's phenotype |
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Term
|
Definition
| Prader-Willi and Angelman's syndromes |
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Term
|
Definition
| Differences in phenotype depend on whether the mutation is of maternal or paternal origin |
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|
Term
|
Definition
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|
Term
|
Definition
| Severity of disease worsens or age of onset of disease is earlier in succeeding generations |
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|
Term
|
Definition
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Term
|
Definition
| If a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops. This is not true of oncogenes. |
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Term
| Dominant negative mutation |
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Definition
| Exerts a dominant effect, a heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning. |
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Term
|
Definition
| Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance. Measured in a population, not in a family, and often varies in different populations. |
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Term
|
Definition
| Lyonization--random X inactivation in females |
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Term
|
Definition
| Occurs when cells in the body have different genetic makeup. |
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Term
|
Definition
| May produce disease that is not carried by parent's somatic cels |
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Term
|
Definition
| Marfan's syndrome, MEN2B, and homocystinuria; all cause marfanoid habitus. |
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Term
|
Definition
| Mutations at different loci can produce the same phenotype. |
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Term
|
Definition
| Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrial inherited disease. |
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Term
|
Definition
| Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent |
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Term
|
Definition
| Mental retardation, hyperphagia, obesity, hypogonadism, hypotonia |
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Term
|
Definition
| Physical findings: almond-shaped eyes, downward turned mouth, genital hypoplasia |
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Term
|
Definition
| Deletion of normally active paternal allele |
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|
Term
|
Definition
| Deletion of normally active maternal allele |
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Term
|
Definition
| Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") |
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Term
|
Definition
| All female offspring of affected father are diseased |
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Term
|
Definition
| Inherited disorder resulting in increased phosphate wasting at proximal tubule. Rickets-like presentation |
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Term
|
Definition
Sons of heterozygous mothers have 50% chance of being affected
No male-to-male transmission |
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|
Term
| Mitochondrial inheritance |
|
Definition
| Transmitted only through mother |
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|
Term
| Leber's hereditary optic neuropathy |
|
Definition
Degeneration of retinal ganglion cells and axons
Acute loss of central vision
Mitochondrial inheritance |
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Term
|
Definition
Trinucleotide repeat disorder
Second most common cause of genetic mental retardation |
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Term
|
Definition
| Findings: macro-orchidism, long face with large jaw, large everted ears, autism, mitral valve prolapse |
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|
Term
Be Wise, Fool's GOLD Heeds Silly Hope, eF!
Bruton's agammaglobulinemia
Wiscott-Aldrich syndrome
Fabry's disease
G6PD deficiency
Ocular albinism
Lesch-Nyhan syndrome
Duchenne's muscular dystrophy
Hunter's Syndrome
Hemophilia A and B
Fragile X syndrome |
|
Definition
| X-linked recessive disorders |
|
|
Term
Try hunting for my fried eggs (X)
Huntington's (CAG)
Myotonic dystrophy (CTG)
Friedreich's ataxia (GAA)
Fragile X syndrome (CGG)
|
|
Definition
| Trinucleotide repeat expansion disorders |
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|
Term
| Meiotic nondisjunction of homologous chromosomes |
|
Definition
| Most common cause of Down's syndrome |
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|
Term
| Low AFP, high beta-hCG, low estriol, high inhibin A |
|
Definition
| Pregnancy quad screen results for Down's syndrome |
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Term
|
Definition
| Severe mental retardation, rocker-bottom feet, micrognathia, low-set ears, clenched hands, prominent occiput, congenital heart disease |
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|
Term
|
Definition
| Severe mental retardation, rocker-bottom feet, microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, congenital heart disease |
|
|
Term
|
Definition
| Contenital microdeletion of short arm of chromosome 5 |
|
|
Term
|
Definition
| Microcephaly, moderate to severe mental retardation, epicanthal folds, cardiac abnormalities, high-pitched crying/mewing |
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Term
|
Definition
| Congenital microdeletion of 7q (deleted region includes elastin gene) |
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|
Term
|
Definition
| Distinctive "elfin" facies, mental retardation, hypercalcemia (increased sensitivity to vitamin D), well-developed verbal skills, extreme friendliness with strangers, cardiovascular problems |
|
|
Term
CATCH-22
Cleft palate, Abnormal facies, Thymic aplasia > T-cell deficiency, Cardiac defects, Hypocalcemia (secondary to parathyroid aplasia) |
|
Definition
|
|
Term
|
Definition
| Skin lesions, edema, liver malfunction (fatty change due to decreased apolipoprotein synthesis) |
|
|
Term
|
Definition
| Protein malnutrition > small child with swollen belly |
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|
Term
|
Definition
|
|
Term
|
Definition
| Tissue and muscle wasting, loss of subcutaneous fat, variable edema |
|
|
Term
Tender Love and Care For No one
Thiamine
Lipoic Acid
CoA (B5)
FAD (B2)
NAD (B3) |
|
Definition
| Pyruvate dehydrogenase complex, enzymes and cofactors |
|
|
Term
Increased intake of ketogenic nutrients (e.g. high fat content or increased lysine and leucine)
This bypasses acetyl CoA step of TCA cycle because ketones can enter the TCA cycle directly |
|
Definition
| Treatment for pyruvate dehydrogenase deficiency |
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|
Term
|
Definition
| Pure ketogenic amino acids |
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|
Term
Oxaloacetate
Lactate
Alanine
Acetyl-CoA |
|
Definition
| 4 different metabolic fates of pyruvate |
|
|
Term
| Lactate generated during anaerobic metabolism undergoes hepatic gluconeogenesis and become a source of glucose for muscle/RBCs. |
|
Definition
|
|
Term
Citrate Is Krebs' Starting Substrate For Making Oxaloacetate
Citrate > Isocitrate > alpha-ketoglutarate > Succinyl-CoA > Succinate > Fumarate > Malate > Oxaloacetate |
|
Definition
|
|
Term
Citrate synthase
Isocitrate dehydrogenase
Alpha-detoglutarate dehydrogenase |
|
Definition
| TCA cycle: irreversible enzymes |
|
|
Term
| Rotenone, cyanide, antimycin A, CO |
|
Definition
| Electron transport inhibitors |
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|
Term
|
Definition
|
|
Term
| 2,4-DNP (wood preservation), aspirin, thermogenin in brown fat |
|
Definition
|
|
Term
Pathway Produces Fresh Glucose
Pyruvate carboxylase: pyruvate > oxaloacetate
PEP carboxykinase: oxaloacetate > phosphoenolpyruvate
Fructose-1,6-bisphosphatase: Fructose-1,6-bisphosphate > fructose-6-P
Glucose-6-phosphatase: Glucose-6-P > glucose |
|
Definition
| Irreversible enzymes of gluconeogenesis |
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|
Term
|
Definition
| Deficiency in fructose intolerance |
|
|
Term
Autosomal recessive
Fructose-1-P accumulates > decreases available phosphate > inhibition of glycogenolysis and gluconeogenesis |
|
Definition
|
|
Term
|
Definition
| Deficiency in essential fructosuria |
|
|
Term
Essential fructosuria
Autosomal recessive
Benign, asymptomatic condition since fructose does not enter cells |
|
Definition
| Fructose in blood and urine |
|
|
Term
Ordinarily, Careless Crappers Are Also Frivolous About Urination:
Ornithine
Carbamoyl phosphate
Citrulline
Aspartate
Argininosuccinate
Fumarate
Arginine
Urea
|
|
Definition
|
|
Term
| Activates LCAT (lecithin-cholesterol acyltransferase) |
|
Definition
|
|
Term
Binds to LDL receptor, mediates VLDL secretion.
Contained in VLDL, IDL, LDL particles |
|
Definition
|
|
Term
| Cofactor for lipoprotein lipase |
|
Definition
|
|
Term
| Inhibits lipoprotein lipase |
|
Definition
|
|
Term
| Mediates chylomicron secretion |
|
Definition
|
|
Term
| Mediates extra remnant uptake |
|
Definition
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|
