Notes in 05 Common Metabolic Disorders

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Published	06/21/2024	{{c4::Carbamoyl phosphate}} may be combined with {{c1::ornithine}} to form {{c2::citrulline}} via the enzyme {{c3::ornithine transcarbamylase}}
Published	06/21/2024	What is the most common urea cycle disorder? {{c1::Ornithine transcarbamylase (OTC) deficiency}}
Published	06/21/2024	What is the mode of inheritance of ornithine transcarbamylase (OTC) deficiency? {{c1::X-linked recessive}}
Published	06/21/2024	Ornithine transcarbamylase (OTC) deficiency often presents within the first few {{c1::days}} of life but may present later
Published	06/21/2024	Does ornithine transcarbamylase deficiency present with orotic aciduria? {{c1::Yes}}
Published	06/21/2024	Ornithine transcarbamylase (OTC) deficiency presents with {{c1::increased}} NH4+ and {{c1::hyper}}-ammonemia
Published	06/21/2024	Ornithine transcarbamylase (OTC) deficiency presents with {{c1::increased}} serum glutamine
Published	06/21/2024	Ornithine transcarbamylase (OTC) deficiency presents with {{c1::decreased}} BUN
Published	06/21/2024	{{c3::Phenylalanine}} may be converted to {{c1::tyrosine}} via the enzyme {{c2::phenylalanine hydroxylase}} (with {{c4::tetrahydrobiopterin}} as a cof…
Published	06/21/2024	Deficiency of the enzyme {{c1::phenylalanine hydroxylase}} causes {{c2::phenylketonuria (PKU)}}
Published	06/21/2024	What amino acid becomes essential in patients with phenylketonuria? {{c1::Tyrosine}}
Published	06/21/2024	Increased phenylalanine (e.g. in PKU) results in excess {{c1::phenylketones}} in the urine
Published	06/21/2024	What is the mode of inheritance of phenylketonuria (PKU)? {{c1::Autosomal recessive (incidence ~ 1:10,000)}}
Published	06/21/2024	When are patients screened for phenylketonuria?{{c1::2-3 days after birth}}
Published	06/21/2024	Why is screening for phenylketonuria performed 2-3 days after birth? {{c1::May be normal at birth due to maternal enzymes}}
Published	06/21/2024	{{c2::Phenylketonuria (PKU)}} is a metabolic disorder characterized by a(n) {{c1::musty}} body odor
Published	06/21/2024	Patients with phenylketonuria must avoid the artificial sweetener {{c1::aspartame}}, which contains phenylalanine
Published	06/21/2024	Phenylketones include {{c1::phenylacetate}}, {{c2::phenyllactate}}, and {{c3::phenylpyruvate}}
Published	06/21/2024	Phenylketonuria may present with {{c1::fair}} skin, eczema, {{c2::intellectual}} disability, growth retardation, and seizures
Published	06/21/2024	Treatment for phenylketonuria includes a diet low in {{c1::phenylalanine}} with supplemental {{c2::tyrosine}} +/- {{c3::tetrahydrobiopterin}}
Published	06/21/2024	Patients with phenylketonuria develop hypopigmentation of what brain nuclei?{{c1::Catecholaminergic brain nuclei}}
Published	06/21/2024	What is the work-up for phenylketonuria? {{c1::Phenylalanine levels on newborn screening or quantitative amino acid analysis (showing increased phenyl…
Published	06/21/2024	What is the most likely diagnosis in a 4-month old boy who presents with seizures? He was born at home. Physical exam shows light hair and blue eyes. …
Published	06/21/2024	{{c1::Propionic acidemia}} is a defect in the enzyme {{c2::propionyl-CoA carboxylase}}
Published	06/21/2024	What is the mode of inheritance of Propionic acidemia? {{c1::Autosomal recessive}}
Published	06/21/2024	Propionic acidemia results in {{c1::increased}} levels of propionyl-CoA and {{c1::decreased}} levels of methylmalonic acid
Published	06/21/2024	Propionic acidemia presents with poor feeding, {{c2::vomiting}}, hypotonia, {{c1::anion gap metabolic acidosis::blood pH pathology}}, hepatomegaly and…
Published	06/21/2024	The treatment for propionic acidemia is a low {{c1::protein}} diet that does not include {{c1::valine}}, {{c1::methionine}}, {{c1::isoleucine}}, or {{…
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