Laura Curson, a year nine student at Stokesley School, faces the daily challenges of Glutaric
Aciduria Type One, which affects many aspects of her life, in particular her mobility.
HGD deficiency leads to the accumulation of homogentisic acid (HGA) that can be excreted in the urine (homogentisic
aciduria) or can oxidize and polymerize to form an ochronotic pigment that is deposited in the connective tissues (ochronosis) or within the joints (ochronotic arthropathy) (1).
The company added that the funds will be used to support the pre-clinical development of an exosome-based therapy to treat argininosuccinic
aciduria (ASA) in collaboration with University College London (UCL).
A few other metabolic disorders, such as organic
aciduria, cortical basal ganglionic degeneration, and early-onset levodopa-responsive parkinsonism, also show hyperintense signals within the basal ganglia.
Keywords: Gas chromatography-Mass spectrometry, Inherited metabolic disorders, Organic
aciduria.
3-OH-3-methyl glutaric
aciduria: A metabolic disease that could be confused with Reye's syndrome.
In summary, the combination of argininemia and ornithinemia with 3-hydroxyisovaleric
aciduria in this patient was not consistent with any known inborn error of metabolism.
Keywords: Methylmalonic
aciduria, Methylmalonyl-CoA mutase deficiency, Cobalamin related remethylation disorders, Vitamin B 12 deficiency, Pakistan.
The differential diagnosis of MLC contains disorders with increased volumes of white matter and macrocephaly such as Canavan disease, Alexander disease, L-2-hydroxyglutaric
aciduria, and merosin-deficient congenital muscular dystrophy (4, 5).
L-2-Hydroxyglutaric
aciduria (L2HGA) is a very rare inherited metabolic disease with autosomal recessive inheritance [Online Mendelian Inheritance in Man (OMIM) #236792].
Transient 5-oxoprolinuria (pyroglutamic
aciduria) with systemic acidosis has been reported in an adult receiving antibiotic therapy (12).
Examples of inherited metabolic diseases with asymmetric neurological symptoms include dystonia in Segawa disease, Leigh disease, unilateral tremor in atypical forms of glutaric
aciduria type I and Wilson disease (11,12).