Notes in LE008 Metabolic Diseases

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Published	10/14/2024	Define metabolic diseases
Published	10/14/2024	{{c1::Inborn errors of metabolism (IEM)}} describe a group of disorders such as {{c2::alkaptonuria}} and {{c2::cystinuria}}
Published	10/14/2024	Metabolic diseases are {{c1::rare individually}} but {{c2::common collectively}}
Published	10/14/2024	Metabolic diseases are rare individually but {{c1::common collectively }}
Published	10/14/2024	There are more than {{c1::500}} metabolic diseases
Published	10/14/2024	Metabolic diseases are commonly present in {{c1::newborns}} but can be at any age
Published	10/14/2024	Metabolic diseases are {{c1::genetic }}, many are {{c2::treatable}}, and some are {{c2::curable}}
Published	10/14/2024	Many metabolic diseases are {{c1::treatable}} and some are curable
Published	10/14/2024	Many metabolic diseases are treatable and some are {{c1::curable }}
Published	10/14/2024	Leon Rosenberg discovered which 6 metabolic diseases at Yale
Published	10/14/2024	Define anabolic state (the FED state)
Published	10/14/2024	Define catabolic state (the FASTING state)
Published	10/14/2024	What are the three categories of metabolic diseases
Published	10/14/2024	What is ICIMID?
Published	10/14/2024	What are clinical indicators of metabolic disease? (4)
Published	10/14/2024	What are the common laboratory indicators of metabolic disease? (5)
Published	10/14/2024	Black/brown colored urine is a clue for {{c1::Alkaptonuria}}
Published	10/14/2024	Brown urine is a clue for {{c1::Myoglobinuria}}
Published	10/14/2024	Red urine is a clue for {{c1::Hematuria}}, {{c1::Porphyria}}, and/or {{c1::drugs}}
Published	10/14/2024	Musty urine is a clue for {{c1::Classic PKU}}
Published	10/14/2024	Maple syrup smelling urine is a clue for {{c1::Maple Syrup Urine Disease}}
Published	10/14/2024	Cabbage smelling urine is a clue for {{c1::Tyrosinemia}}
Published	10/14/2024	Diseases of intoxification need to be treated {{c1::very quickly}} or patients will die
Published	10/14/2024	Complex molecule metabolic disease usually take {{c1::longer to diagnose and present later}}
Published	10/14/2024	Fish-market smelling urine is a clue for {{c1::Trimethylaminuria}}
Published	10/14/2024	The signs and symptoms of metabolic diseases are {{c1::not specific}} at early phase of clinical presentations
Published	10/14/2024	The {{c1::duration}} of disturbed metabolic condition is one of the major predicting factors for outcome. The {{c1::earlier}} the intervention, the be…
Published	10/14/2024	Progressive {{c1::neurological}} presentations are commonly present in metabolic diseases.
Published	10/03/2024	In metabolic diseases the earlier the intervention the {{c1::better the outcome }}
Published	10/14/2024	The majority of metabolic diseases do not have {{c1::dysmorphology and structural defects}}, making it harder to detect.
Published	10/14/2024	What are 5 ways to remedy metabolic pathway defects?
Published	10/03/2024	How is phenylketonuria (PKU) treated (3 options)?
Published	10/14/2024	What are four examples of intoxication diseases?
Published	10/14/2024	What are two examples of energetic disorders?
Published	10/14/2024	What are two examples of complex molecule disorders?
Published	10/14/2024	What are the clinical presentations of maple syrup urine disease? (Onset and four symptoms)
Published	10/14/2024	What are the three branch chain amino acids?
Published	10/14/2024	Which enzyme is deficient in Maple Syrup Urine Disease?
Published	10/14/2024	What is the mode of inheritance for MSUD?
Published	10/14/2024	How do you diagnose MSUD?
Published	10/14/2024	What is the treatment for MSUD?
Published	10/14/2024	What is the permanent correction for MSUD
Published	10/14/2024	What are the clinical presentations of homocystinuria? (Onset and 5 symptoms)
Published	10/14/2024	Why does MSUD only present 2 days of age and not immediately?
Published	10/14/2024	What enzyme is deficient in homocystinuria?
Published	10/14/2024	How do you diagnose homocystinuria genetically?
Published	10/14/2024	How do you diagnose homocystinuria biochemically?
Published	10/14/2024	How do you treat homocystinuria? (3)
Published	10/14/2024	What is the clinical presentation of methylmalonic aciduria (MMA)? (onset and symptoms)
Published	10/14/2024	Which enzyme or cofactor is deficient in methymalonic aciduria?
Published	10/14/2024	In MSUD why can we not take away valine, leucine and isoleucine?
Published	10/14/2024	What are four treatments for methymalonic acidemia?
Published	10/14/2024	What are the clinical presentation of urea cycle disorders?
Published	10/14/2024	What two processes maintain amino acid balance in the body?
Published	10/14/2024	What enzyme converts glutamate to glutamine?
Published	10/14/2024	What process converts amino acid to glutamate?
Published	10/14/2024	What is the primary presentation (initially and later) for Ornithine transcarbamylase (OTC) deficiency?
Published	10/14/2024	What process is methylmalonyl-coA mutase involved in?
Published	10/14/2024	What enzyme and cofactor may be deficient in propionic acidemia?
Published	10/14/2024	How do you diagnose OTC deficiency?
Published	10/14/2024	What is the mode of inheritance for OTC deficiency?
Published	10/14/2024	What laboratory findings are apparent in patients with OTC deficiency
Published	10/14/2024	What are the ways to manage OTC deficiency?
Published	10/14/2024	What are three consequences of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)?
Published	10/14/2024	Diagnostic tests for MCADD deficiency
Published	10/14/2024	How is MCADD managed
Published	10/14/2024	What are the clinical presentations of Gaucher disease
Published	10/14/2024	What is type 1 Gaucher disease?
Published	10/14/2024	What are the four subtypes of Gaucher's disease amd when do they occur?
Published	10/14/2024	How do you diagnose Gaucher Disease?
Published	10/14/2024	What does the bone marrow look like in Gaucher disease?
Published	10/14/2024	What is the main therapeutic option for Gaucher disease?
Published	10/14/2024	What are some common mechanisms that lead to deficient products in metabolic diseases?
Published	10/14/2024	Common biochemical screening and diagnostic tests involve use of {{c1::blood}}, {{c1::urine}}, {{c1::CSF}}, and {{c1::tissue}} samples
Published	10/14/2024	General pointers of Metabolic DiseasesPresentation: catastrophic {{c1::neonatal (or late)}} presentation, progressive {{c1::neurologic}} det…
Published	10/14/2024	{{c1::Phenylketonuria (PKU)}}Presentation: onset at a few months of age. Musty urine odor. Decreased pigmentation of skin due to lack of Tyrosine conv…
Published	10/14/2024	{{c1::Maple Syrup Urine Disease}}Presentation: Early onset (a few days old). Neonatal vomiting, lethargy, poor suckling behavior, poor feeding, progre…
Published	10/14/2024	{{c1::Homocystinuria}}Presentation: Late onset (childhood). Marfanoid habitus = similar to marfan syndromeLabs: elevated levels of homocysteine in blo…
Published	10/14/2024	{{c1::Methylmalonic aciduria/acidemia}}Presentation: early onset: well for first few days of life then toxic encephalopathy. Labs: metabolic acid…
Published	10/14/2024	{{c1::OTC deficiency}}Presentation: most common urea cycle disorder. Poor feeding, lethargy, altered mental status, seizure Labs: low citrulline,…
Published	10/14/2024	{{c1::Medium chain Acyl-CoA dehydrogenase (MCAD) deficiency}}Presentation: sudden onset, hypoketotic, hypoglycemia. Responsible for ~10% of SIDS.Labs:…
Published	10/14/2024	{{c1::Glycogen Storage Disease 1 (GSD1) (Von Gierke Disease)}}Presentation: early morning hypoglycemia, significantly enlarged liverGenetics: {{c…
Published	10/14/2024	{{c1::Gaucher disease}}Presentation: different symptoms depending on type, can manifest at any age. May include bone disease, easy bruising, splenomeg…
Published	10/14/2024	{{c1::Congenital disorders of glycosylation 1a (PMM-CDG)}}Presentation: variable, generally includes severe psychomotor retardation, seizures, hypoton…
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