40 Result(s)
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Chapter
Georg F Hoffmann
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Disorders of Monoamine Metabolism
Neurotransmitters include the catecholamines (dopamine, norepinephrine, and epinephrine) and the indoleamines (serotonin and melatonin). They are chemical messengers, which mediate, amplify, or modulate synapt...
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Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
Twelve inborn errors of metabolism are described in this chapter. Glutaric aciduria type I, L-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric aciduria (type I and II), D-2−/L-2-hydroxyglutaric aciduria, N-acet...
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Kreatinmangelsyndrome
Kreatinmangelsyndrome werden durch 3 monogene Defekte der Synthese oder des zellulären Imports von Kreatin verursacht. Seit der Erstbeschreibung 1994 wurden ungefähr 100 Patienten diagnostiziert. Hierbei wurde...
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Defekte der Cholesterolbiosynthese
Defekte der Cholesterolbiosynthese sind die ersten monogenen Erbkrankheiten, die als Ursache embryofetaler Fehlbildungssyndrome nachgewiesen wurden. Ein einziger Enzymdefekt ist im proximalen Teil des Synthese...
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Aminoazidopathien
Gemeinsames biochemisches Merkmal aller angeborenen Aminoazidopathien, die durch angeborene Defekte spezifischer Enzyme und Transporter verursacht werden, ist die Akkumulation charakteristischer Aminosäuren un...
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Differenzialdiagnose und Notfallbehandlung von Intermediärstoffwechselkrankheiten
Immer mehr angeborene Stoffwechselkrankheiten sind erfolgreich behandelbar. Umso wichtiger ist es, die Diagnose zeitnah zu stellen, da jegliche Verzögerung des Therapiebeginns schwere irreversible Folgeschäden...
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Organoazidurien
Organoazidurien sind eine ätiologisch heterogene Gruppe angeborener Stoffwechselerkrankungen: Sie unterscheiden sich weder hinsichtlich ihrer Ätiologie noch ihrer Pathogenese grundsätzlich von den Aminoazidopa...
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A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy
SLC25A42 is an inner mitochondrial membrane protein which has been shown to transport coenzyme A through a lipid bilayer in vitro. A homozygous missense variant in this gene has been recently reported in 13 su...
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Neurotransmitter Defects and Related Disorders
Monogenic defects of neurotransmission have become recognized as causes of severe, progressive encephalopathies mostly of early onset. The clinical presentation can be quite distinctive. Patients suffering fro...
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Patient Care and Treatment
Care and treatment of patients with an inherited metabolic disease require both a detailed knowledge of the natural history of the diseases and a comprehensive understanding of the molecular basis and the path...
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Metabolic Emergencies
The driving force in the early recognition and treatment of metabolic emergencies is the maintenance of a suspicion that such a disorder may be the underlying cause. The classic presentation of inborn errors o...
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Workup of the Patient with Lactic Acidemia: Mitochondrial Disease
Genetically determined causes of lactic acidemia fall into two categories: abnormalities in gluconeogenesis and defects of oxidative phosphorylation or mitochondrial disease. This distinction is important beca...
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Approach to the Child Suspected of Having a Disorder of Fatty Acid Oxidation
Hypoketotic hypoglycemia signifies a disorder of fatty acid oxidation. An absence of ketones in urine at the time of hypoglycemia is an important clue, but the presence of ketonuria may be misleading. Blood le...
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Work-Up of the Patient with Acute Neurological or Psychiatric Manifestations
Many inherited metabolic diseases lead to neurologic or psychiatric manifestations, often as the leading symptoms. A substantial number of patients present with acute encephalopathy to emergency departments wh...
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Inherited Metabolic Diseases in the Context of Rare/Orphan Diseases
Inherited metabolic diseases have changed from a limited group of rare, untreatable, often fatal disorders to an important cause of acutely life-threatening and increasingly treatable diseases. Unchanged is th...
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Workup of the Patient with Metabolic Acidosis and Massive Ketosis
Massive ketosis in a neonate or young infant is a key to the diagnosis of a classic organic aciduria. The initial episode may begin with vomiting, anorexia, and lethargy, but progresses rapidly to life-threate...
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Work-Up of the Patient with Hypoglycemia
Hypoglycemia must be recognized promptly and treated effectively, if permanent damage to the brain is to be prevented. Rational treatment demands a specific diagnosis of the disease causing the hypoglycemia. T...
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Work-Up of the Patient with Hyperammonemia
Hyperammonemia is the hallmark of the disorders of the urea cycle but occurs episodically also in organic acidurias and disorders of fatty acid oxidation. Routine clinical chemistry is helpful in pointing the ...
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Emergency Treatment of Inherited Metabolic Diseases
In patients at risk for acute metabolic decompensation, timely intervention during the initial presentation of metabolic imbalance and during later metabolic crises precipitated by dietary indiscretion or inte...
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Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias
Background: The state of newborn screening (NBS) programmes for organic acidurias in Europe was assessed by a web-based questionnaire in the EU programme of Community Action in Public Health 2010/2011 among the –...
