Assertion: alkaptonuria | /r/HasProperty | aku
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Source sentences:
text: Alkaptonuria (AKU) is a rare autosomal recessive disease of tyrosine metabolism that is caused by a deficiency of the enzyme homogentisic acid oxidase (HGAO).
text: ALKAPTONURIA; AKU –
text: Alkaptonuria (AKU) is a rare genetic disorder that causes urine to turn dark black, when exposed to the air
text: Alkaptonuria (AKU) (sometimes spelled alcaptonuria) is a disorder in which a substance called homogentisic acid (HGA) accumulates in cells and connective tissues throughout the body.
text: A number sign (#) is used with this entry because alkaptonuria (AKU) is caused by homozygous or compound heterozygous mutation in the homogentisate 1,2-dioxygenase gene (HGD; 607474) on chromosome 3q13.
text: Simon Laxon was, unusually, diagnosed with Alkaptonuria (AKU) when he was six weeks old.
text: Alkaptonuria (AKU), the incidence of which is 1-9 in a million, can be difficult to diagnose.
text: Alkaptonuria (AKU) is a rare autosomal recessive aminoacidopathy that results from the absence of the homogentisate 1,2 dioxygenase enzime.
text: Alkaptonuria (AKU) is a rare autosomal recessive aminoacidopathy of the phenylalanine/tyrosine metabolism that consists in the absence of the homogentisic acid (HGA) 1,2-dioxidase, resulting in HGA accumulation in the body and excretion of this in the urine.  
text: Alkaptonuria (AKU) is an ultrarare disease, described by Archibald Garrod as the prototype for proving his theory of “inborn errors of metabolism
text: Alkaptonuria (AKU) is a rare autosomal recessive disorder that results from a deficiency of the homogentisic acid dioxygenase (HGD) activity, which is the third enzyme in tyrosine degradation.
text: Alkaptonuria (AKU) was historically used by Archibald Garrod in his lectures in 1908.
text: Alkaptonuria (AKU) is a rare autosomal-recessive metabolic disease, resulting from excess homogentisic acid (HGA) due to an autosomal recessive mutation of the homogentisate 1,2-dioxygenase (HGD) gene on chromosome 3.
text: Alkaptonuria (AKU) is a rare inherited disease caused by defects of the enzyme homogentisic acid dioxygenase, resulting in the accumulation of homogentisic acid in the body and its excretion in the urine.
text: Alkaptonuria (AKU) is a rare inherited disease caused by defects of the enzyme homogentisic acid dioxygenase, resulting in the accumulation of homogentisic acid in the body and its excretion in the urine.
text: Alkaptonuria (AKU) is an ultrarare disease with prevalence in most populations between 1 in 250,000 to 1 in 1,000,000.
text: Alkaptonuria (AKU) is a rare genetic disease that causes early-onset, severe osteoarthritis.
text: Alkaptonuria (AKU) is an autosomal recessive disorder caused by a deficiency of homogentisate 1,2 dioxygenase (HGD) and characterized by homogentisic aciduria, ochronosis, and ochronotic arthritis.
text: Alkaptonuria (AKU), a rare autosomal recessive condition,
text: What is Alkaptonuria (AKU)?
text: Alkaptonuria (AKU) is a painful, crippling and degenerative genetic disorder, also known as ‘Black Bone Disease’.
text: Alkaptonuria (AKU) is considered a rare autosomal recessive condition that results in an accumulation of homogentisic
text: The main cause of disability in patients with alkaptonuria (AKU) is arthritis.
text: Many people diagnosed with alkaptonuria (AKU) have difficulty accessing efficient and effective care to treat their AKU.
text: The three main features of alkaptonuria (AKU) are the presence of a substance called homogentisic acid (HGA) in the urine, ochronosis and arthritis.
text: Diagnosis of Alkaptonuria (AKU) can be possible in infancy but is often delayed until adulthood long after symptoms manifest
text: orotic acid (OA), and homogentisic acid (HGA) are diagnostic biomarkers of neuroblastoma, ornithine carbamoyl transferase deficiency (OCTD), and alkaptonuria (AKU), respectively.
text: Objectives To describe the clinical presentation and course of a relatively large group of Italian adult patients screened for mutation of the homogentisate dioxygenase gene causing alkaptonuria (AKU) and ochronosis, and to review typical and atypical facets of this condition.
text: orotic acid (OA), and homogentisic acid (HGA) are diagnostic biomarkers of neuroblastoma, ornithine carbamoyl transferase deficiency (OCTD), and alkaptonuria (AKU), respectively.
text: orotic acid (OA), and homogentisic acid (HGA) are diagnostic biomarkers of neuroblastoma, ornithine carbamoyl transferase deficiency (OCTD), and alkaptonuria (AKU), respectively.
text: Metabolic block in alkaptonuria (AKU) affects homogentisic acid dioxygenase (HGD) and causes its accumulation, while nitisinone blocks 4-hydroxyphenylpyruvic acid dioxygenase and impedes formation of HGA.
text: Nitisinone decreases homogentisic acid (HGA), but has not been shown to modify progression of Alkaptonuria (AKU).
text: Objectives To describe the clinical presentation and course of a relatively large group of Italian adult patients screened for mutation of the homogentisate dioxygenase gene causing alkaptonuria (AKU) and ochronosis, and to review typical and atypical facets of this condition.
text: The French website, translated from English by Simone and Serge Sireau, is a response to numerous requests from French-speakers around the world for a source of information about Alkaptonuria (AKU) in French.
text: Box plots of 24-h urinary excretion (µmol/24 h) of homogentisic acid (u-HGA 24 ) in untreated and nitisinone-treated patients with alkaptonuria (AKU) over time.
text: Haemolysis and methaemoglobinaemia (MetHb) are rare metabolic complications that can occur in Alkaptonuria (AKU), for which there is no curative treatment.
text: This year’s theme is all about elevating the patient voice, so we caught up with member Ann (annpkerrigan) to learn more about what it’s like to live with alkaptonuria (AKU), a rare disease that affects 159 PatientsLikeMe members.