12 Result(s)
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Article
Open AccessHypoglycaemia related to inherited metabolic diseases in adults
In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious. Nevertheless, some hy...
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Article
Open AccessEndocrine manifestations related to inherited metabolic diseases in adults
Most inborn errors of metabolism (IEM) are recessive, genetically transmitted diseases and are classified into 3 main groups according to their mechanisms: cellular intoxication, energy deficiency, and defects...
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Therapy Insight: inborn errors of metabolism in adult neurology—a clinical approach focused on treatable diseases
Inborn errors of metabolism account for around a third of all genetic diseases. They can affect many organs, but in most cases they involve the nervous system. This Review focuses on treatable inborn errors of...
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Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency
Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare inborn disorder of l-lysine, l-hydroxylysine, and l-tryptophan metabolism complicated by striatal damage during acute encephalopathic crises. Three decade...
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Kinetic Modeling of Plasma Leucine Levels during Continuous Venovenous Extracorporeal Removal Therapy in Neonates with Maple Syrup Urine Disease
A kinetic modeling of leucine plasma concentration changes is proposed to describe the plasma leucine reduction rate during continuous extracorporeal removal therapy (CECRT) in neonates with maple syrup urine ...
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Hyperinsulinism and Hyperammonemia Syndrome: Report of Twelve Unrelated Patients
Hyperinsulinism and hyperammonemia syndrome has been reported as a cause of moderately severe hyperinsulinism with diffuse involvement of the pancreas. The disorder is caused by gain of function mutations in t...
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Aberrant Splicing of Exon 6 in the Pyruvate Denydrogenase-Elα mRNA Linked to a Silent Mutation in a Large Family with Leigh's Encephalomyelopathy
ABSTRACT: Pyruvate dehydrogenase (PDH)-Elα deficiency has recently been studied at the molecular-genetic level. The gene is situated on the X chromosome. We report on an unusual mutation in a familial Elα defi...
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In Vivo Study of Phytanic Acid α-Oxidation in Classic Refsum's Disease and Chondrodysplasia Punctata
A series of in vivo experiments is described in which [1-13C]phytanic acid was given as an oral substrate to a healthy subject and two patients showing an impairment in phytanic acid degradation, one with Refsum'...
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Article
Immunoquantitative Analysis of Human Carnitine Palmitoyltransferase I and II Defects
ABSTRACT: Carnitine palmitoyltransferase deficiency realizes two distinct clinical forms. We previously showed and confirmed in the present work that CPTII (identified as the carnitine palmitoyltransferase act...
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Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities
ABSTRACT: Human carnitine palmitoyl transferase (CTP) deficiency results in two different clinical variants, one with “hepatic” and one with “muscular” symptoms. We studied CPT activity and long-chain fatty ac...
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Studies on Requirements for Amino Acids in Infants with Disorders of Amino Acid Metabolism. I. Effect of Alanine
ABSTRACT: Two infants with disorders of propionate metabolism were studied at 7 months of age to determine optimum levels of intake of protein and calories to meet the requirements for essential amino acid for...
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Oxidation of Fatty Acids in Cultured Fibroblasts: a Model System for the Detection and Study of Defects in Oxidation
Summary: A number of recently described inherited disorders interfere with the oxidation of fatty acids. In these disorders at least three different metabolic steps may be affected: (1) transport of long chain...
