An Experimental Model of Porphyria [PDF]
, 1992 1. The porphyrias are a group of disorders of haem metabolism, due to an enzymatic defect in the haem biosynthetic pathway. Two current hypotheses regarding the underlying causes of the neuropathy of the acute type of porphyria were examined.
Odber, Josephine
core
PLoS ONE, 2018 In vertebrates, the initial step in heme biosynthesis is the production of 5-aminolevulinic acid (ALA) by ALA synthase (ALAS). ALA formation is believed to be the rate-limiting step for cellular heme production.
Shinichi Saitoh +11 more
doaj +1 more source
Altered myelination as a proposed mechanism for neurocognitive dysfunction observed in mice with Tyrosinemia type 1 [PDF]
, 2018 The exact mechanism behind the recent reports of impaired neurocognitive function in individuals with the rare genetic disorder Hereditary Tyrosinemia Type I (HT1) has yet to be determined.
Moore, Marissa E.
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Point mutations in the Murine Fah gene : animal models for the human genetic disorder hereditary tyrosinemia type 1 [PDF]
, 1997 Hereditary tyrosinemia type 1 (HT1) is a severe autosomal recessive metabolic disease, associated with point mutations in the human fumarylacetoacetate hydrolase (FAH) gene that cause disruption of tyrosine catabolism.
Aponte, Jennifer Lynn
core +1 more source
Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study [PDF]
, 2021 Spada, Marco
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LABRAD : Vol 45, Issue 1 - February 2019 [PDF]
, 2019 Cardiac Manifestation of Inherited Metabolic Disorders Utility of Plasma Homocysteine in Identifying Inherited Metabolic Disorders (IMDs) Chediak-Higashi Syndrome, an Inherited Disorder in Phagocytic Function Radiology-Pathology Correlation Rare Diseases
Aga Khan University Hospital, Karachi
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Haem Biosynthesis in Isolated Human Erythroblasts [PDF]
, 1990 Hepatic haem biosynthesis has been well characterised. The first enzyme of the haem biosynthetic pathway, 5-aminolaevulinic acid (ALA) synthase, is rate-limiting and under negative feedback control by haem.
Houston, Tracey
core
Evaluation of different deoxyribonucleic acid (DNA) extraction methods using dried blood spot for early infant diagnosis of HIV1 in Sub-Saharan Africa [PDF]
, 2012 Armel, PM +10 more
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Tyrosinemia type 1: A case report [PDF]
Tyrosinemia Type 1 is a rare inherited metabolic disorder attributable to a deficiency of enzyme fumarylacetoacetate hydrolase. It hasan autosomal recessive pattern of inheritance.
Banu, Nasima +2 more
core +1 more source
Unveiling the unexpected: refractory rickets as an uncommon presentation of tyrosinemia type I. [PDF]
BMC PediatrRamanna MB, Kamate M, Koppad B.
europepmc +1 more source