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).
(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).