Metabolism decompensation

Brain edema, often associated with increased intracranial pressure, may accompany the acute phase of metabolic decompensation in the aminoacidurias 671... 

Imbalances of brain amino acids may hinder the synthesis of brain lipids, leading to a diminution in the rate of myelin formation. Decreases of lipids, proteolipids and cerebrosides (Ch. 3) have been noted in several of these syndromes, e.g. maple syrup urine disease, when intra-myelinic edema is a prominent finding, particularly during the acute phase of metabolic decompensation [9]. Pathological changes in brain myelin are common, especially in infants who die early in life. The fundamental... 

Effective treatment of maple syrup urine disease involves the restriction of dietary branched-chain amino acids. Long-term treatment entails the dietary restriction of the BCAAs. This is accomplished by administration of a special formula from which these amino acids are removed. The outlook for intellectual development is favorable in youngsters in whom diagnosis is made early and who do not suffer recurrent, severe episodes of metabolic decompensation [17]. 

Jan,W., Zimmerman, R. A.,Wang, Z. J., Berry, G. T., Kaplan, P. B. and Kaye, E. M. MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation. Neuroradiology 45 393-399,2003. 

Urine is collected from patients suspected to have an organic acidemia preferably during an acute metabolic decompensation. As this is often not possible, an early morning specimen should be collected. The sample should be sent frozen and without preservatives. 

Why might infection precipitate metabolic decompensation in an individual with HMG-CoA lyase deficiency ... 

The patient was suffering from newly diagnosed type 1 diabetes and one of its common metabolic decompensations, diabetic ketoacidosis (DKA). 

Newly diagnosed patients with type 1 diabetes may present with acute metabolic decompensations, ketone production, and metabolic acidosis, a condition known as diabetic ketoacidosis (DKA).Although (J-cell destruction occurs gradually, acute physical or emotional stress can acutely create a demand for increased insulin production. 

Metabolic decompensation Pronounced functional decrease or dysfunction in several metabolic areas result in partial metabolic insufficiency. With the failure of additional metabolic functions, there is a risk of global metabolic insufficiency. Development of metabolic insufficiency (also known as cellular decompensation) is due to a significant loss of hepatocytes (e. g. mass necroses) and/or a loss of function of the hepatocytes (e.g. insufficient numbers of hepatocytes and accumulation of waste products in cirrhotic transformation with the development of shunts). 

Inherited FAO disorders represent a rapidly expanding class of metabolic diseases. Symptoms may appear at any age, from birth to adult life, frequently leading to life-threatening episodes of metabolic decompensation after a period of inadequate caloric intake and/or intercurrent illness. Typical manifestations are hypoketotic hypoglycemia, Ever disease, cardiomyopathy, and sudden death. Table 55-4 shows a summary of known disorders of fatty add transport and mitochondrial oxidation, including information about their incidence, major clinical features and biochemical patterns, availability of prenatal diagnosis and newborn screening, and association with sudden and unexpected death. 

Early diagnosis is crucial, because MCAD deficiency is a potentially lethal disease, documented by the fact that up to at least 20% of undiagnosed patients die during their first metabolic decompensation. A common missense mutation (985A>G K304E) has been identified in Caucasians of Northern European descent, which results in reduced production of an unstable protein. 

Chiandetti L, ZaccheHo F. Acute metabolic decompensation in methylmalonic acidosis time sequence in the urinary excretion pattern of precursor organic acids and their major metabolites. Perspect Inherit Metab Dis 1987 7 57-70. 

In the absence of unequivocal hyperglycemia with acute metabolic decompensation, these criteria should be confirmed by repeat testing on a different day. The third measure (OGTT) is not recommended for routine clinical use. 

Two other forms of severe metabolic decompensation may occur in diabetics. These are hyperosmolar non-ketotic (HONK) coma and lactic acidosis. Table I shows the principal features of these conditions in comparison with DKA. 

Table 1 Principal features of three forms of metabolic decompensation in diabetes...

L-camitine is given in many metabohc disorders as a supplement or to correct a carnitine deficiency. The dose of carnitine can vary between 50 and 100 mg/kg/day, and in some organic acidurias, as much as 200-300 mg/kg/24 days may be necessary, hi some of the long-chain fatty acid oxidation disorders, use of carnitine is controversial, and in the view of potential adverse effects (formation of car-diotoxic acylcamitines), supplementation at time of metabolic decompensation should be avoided [18]. 

With any intercurrent illness, individuals with MSUD are at risk for metabolic decompensation. During these episodes, development of cerebral edema can be fatal. Families and individuals with MSUD should know the signs of metabolic decompensation and be provided with an emergency protocol that includes both directions for the family and for emergency personnel who may become involved in their care. Information for contacting the on-call metabolic physician must be included in any protocol. 

Scholl-BUrgi S, et al. Stroke-fike episodes in propionic acidemia caused by central focal metabolic decompensation. Neuropediatrics. 2009 40(2) 76-81. 

Siekmeyer M, et al. Citric acid as the last therapeutic approach in an acute life-threatening metabolic decompensation of propionic acidaemia. J Pediatr Endocrinol Metab. 2013 26(5-6) 569-74. 

Abacan M, Boneh A. Use of caiglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia. Mol Genet Metab. 2013 109(4) 397-401. 

Mayatepek E, Schulze A. Metabolic decompensation and lactic acidosis in propionic acidaemia complicated by thieunine deficiency. J Inherit Metab Dis. 1999 22(2) 189-90. 

Patients with PROP and MMA are at risk for metabolic decompensation with any intercurrent illness, serious injury, or surgery [11]. The goal of treatment is to reduce or prevent catabolism by providing suffident energy. A sick-day protocol can be provided at home with minor illnesses (Box 20.5). 

Although there is limited experience in managing pregnancies in these disorders, it has become apparent that the risk for metabolic decompensation increases for the mother, especially during the postpartum period when protein catabolism is greatest. However, unlike in PKU, it appears that the infant may not be at increased risk of adverse outcomes in these other protein metabolism disorders. This chapter will review what has been learned about managing pregnancies in these intoxication disorders. 

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