22 Result(s)
within
English
Medicine & Public Health
General Practice / Family Medicine
Georg F Hoffmann
Chapter
-
Chapter
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...
-
Chapter
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...
-
Chapter
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...
-
Chapter
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...
-
Chapter
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...
-
Chapter
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...
-
Chapter
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...
-
Chapter
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...
-
Chapter
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...
-
Chapter
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 ...
-
Chapter
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...
-
Chapter
Liver Disease
Liver pathology is an important and common sequel of inherited metabolic diseases. It is the central metabolic organ; so defects in any of the following pathways of intermediary metabolism can lead to signific...
-
Chapter
Neurotransmitter Defects and Related Disorders
Genetic disorders of neurotransmitter metabolism are increasingly recognised as causes of severe metabolic encephalopathy often starting before birth or soon thereafter. Diagnosis usually requires investigatio...
-
Chapter
Metabolic Emergencies
Acute or recurrent attacks of neurological or psychiatric features such as coma, ataxia, or abnormal behavior are major presenting features especially of several late-onset, inborn errors of metabolism. The in...
-
Chapter
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...
-
Chapter
Metabolic Emergencies
Timely and correct intervention during the initial presentation of metabolic imbalance and during later episodes precipitated by dietary indiscretion or intercur...
-
Chapter
Neurological Disease
The correct diagnosis of inherited metabolic diseases that affect the nervous system primarily is a major challenge because the same neurological symptoms and of...
-
Chapter
Liver Disease
Liver disease is a common and important sequel of inherited metabolic diseases.
Defects in the degradation of...
-
Chapter
Other Metabolic Disorders
-
Chapter
Disorders of Neurotransmission
