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Glutaric Acidaemia, Synonyms: glutaric aciduria, glutaryl-CoA dehydrogenase deficiency (type I GA), electron transport flavoprotein deficiency and electron transport flavoprotein oxo...
These are: Homocystinuria (HCU) Maple syrup urine disease (MSUD) Glutaric aciduria type 1 (GA1) Isovaleric acidaemia (IVA) If you do not want your baby to have some or...
The brain injury is irreversible if not diagnosed and managed early in life. [ 8 ] Glutaric aciduria type 1: Glutaric aciduria occurs in approximately 1 in 109,000 in...
This is part of the UK Newborn Screening Programme (the blood is also analysed for phenylketonuria, cystic fibrosis and sickle cell disease, medium-chain acyl-CoA dehydrogenase deficiency, maple syrup...
Lysine - glutaric aciduria type 1: Affected infants may have normal development up to 2 years of age.
It leads to glycolic aciduria and hyperoxaluria. There is autosomal recessive inheritance and it is the most common of the primary hyperoxalurias.
Urine - medium-chain dicarboxylic aciduria and absent ketones. Skin biopsy can be performed to confirm diagnosis of primary carnitine deficiency - demonstrating reduced carnitine transp...
Metabolic childhood disease - eg, organic acidurias. Primary dermatological disease. Cystic fibrosis . Diagnosing childhood HIV (investigations) [ 7 ] Expectant mothers sh...
Medical conditions predisposing to fractures - eg, osteogenesis imperfecta, metabolic bone disease in neonates, rickets , copper deficiency, osteomyelitis , leukaemia and disseminated neuroblasto...