What is an inherited metabolic disorder?
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Covers inherited metabolic diseases, enzyme deficiencies, and their biochemical and clinical features.
Mastering this deck enables learners to recognize, diagnose, and understand the biochemical mechanisms underlying various inherited metabolic disorders, facilitating accurate clinical reasoning and targeted management of affected patients.
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| # | Front | Back | Hint |
|---|---|---|---|
| 1 | What is an inherited metabolic disorder? | An inherited metabolic disorder is a genetic condition caused by enzyme deficiencies or dysfunctions that disrupt normal biochemical pathways, leading to accumulation or deficiency of specific metabolites and resulting clinical symptoms. | Think of it as a 'biochemical roadblock' caused by genetic error. |
| 2 | Name the enzyme deficiency in classic phenylketonuria (PKU). | Phenylalanine hydroxylase deficiency. | Converts phenylalanine to tyrosine; deficiency causes phenylalanine buildup. |
| 3 | What is the biochemical consequence of a deficiency in glucose-6-phosphatase? | Impaired gluconeogenesis and glycogenolysis lead to hypoglycemia and accumulation of glucose-6-phosphate, causing glycogen storage disease type I (von Gierke disease). | Think of the 'G' enzyme as the 'glucose release' switch. |
| 4 | Which amino acid accumulates in Maple Syrup Urine Disease (MSUD)? | Leucine, along with isoleucine and valine. | The disorder's name hints at the sweet smell caused by these amino acids. |
| 5 | What enzyme deficiency causes Tay-Sachs disease? | Hexosaminidase A deficiency. | The missing enzyme is involved in GM2 ganglioside breakdown. |
| 6 | Describe the biochemical defect in homocystinuria due to cystathionine ฮฒ-synthase deficiency. | Accumulation of homocysteine and methionine, with decreased synthesis of cysteine, leading to vascular, ocular, and skeletal abnormalities. | Think of the 'CBS' enzyme as a 'homocysteine sink'. |
| 7 | What is the hallmark clinical feature of phenylketonuria (PKU)? | Intellectual disability, microcephaly, and fair skin with eczema; also, a musty odor in urine. | Remember 'PKU' as 'Phenylketonuria' with 'p' for 'poor development'. |
| 8 | Which inherited disorder is characterized by the inability to break down branched-chain amino acids? | Maple Syrup Urine Disease (MSUD). | Named for the characteristic sweet-smelling urine. |
| 9 | What is the common biochemical feature of all urea cycle disorders? | Elevated blood ammonia levels (hyperammonemia). | Remember 'Urea cycle' is for nitrogen removal; failure leads to ammonia buildup. |
| 10 | Which enzyme deficiency causes Gaucher disease? | Glucocerebrosidase deficiency. | Leads to accumulation of glucocerebroside in macrophages. |
| 11 | What is the genetic basis of Fabry disease? | X-linked recessive deficiency of alpha-galactosidase A. | Think of 'Fabry' as 'Fab' for females, but mainly affects males. |
| 12 | Name a biochemical defect leading to maple syrup urine disease. | Deficiency of branched-chain ฮฑ-keto acid dehydrogenase complex. | Fails to catabolize leucine, isoleucine, and valine. |
| 13 | What is the typical clinical presentation of Wilsonโs disease? | Hepatocellular damage, neurological symptoms, and Kayser-Fleischer rings in the cornea due to defective copper transport. | Think 'Wilson' for 'Wilson's copper accumulation'. |
| 14 | Which biochemical marker is elevated in Homocystinuria? | Homocysteine and methionine levels are elevated. | Remember 'H' for 'Homocystinuria' and 'High' levels. |
| 15 | What is the primary defect in Alkaptonuria? | Homogentisate oxidase deficiency. | Leads to homogentisic acid accumulation, causing dark urine and ochronosis. |
| 16 | Which enzyme deficiency causes Tay-Sachs disease? | Hexosaminidase A deficiency. | Breaks down GM2 ganglioside; deficiency causes accumulation. |
| 17 | How does a deficiency of phenylalanine hydroxylase affect metabolism? | Results in elevated phenylalanine levels, leading to neurotoxicity and PKU symptoms. | Think of 'PAH' as the 'Phenylalanine to Tyrosine' converter. |
| 18 | What is the primary feature of Niemann-Pick disease? | Sphingomyelinase deficiency leading to sphingomyelin accumulation, causing hepatosplenomegaly and neurodegeneration. | Remember 'Niemann-Pick' as 'N' for 'Neurodegeneration'. |
| 19 | Which inherited disorder involves deficiency of biotin-dependent carboxylases? | Multiple carboxylase deficiency, leading to metabolic acidosis, dermatitis, and alopecia. | Biotin acts as a coenzyme for several carboxylases. |
| 20 | What is the biochemical defect in Krabbe disease? | Galactocerebrosidase deficiency, leading to demyelination. | Demyelination causes neurodegeneration. |
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