What is an inherited metabolic disorder?
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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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| 1 | What is an inherited metabolic disorder? |
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Covers inherited metabolic diseases, enzyme deficiencies, and their biochemical and clinical features.
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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