Aspartic acid deficiency

Aik Phos, alkaline phosphatase ALT, alanine aminotransferase (SCPT) AST, aspartate aminotransferase (SGOT) Bili, bilirubin EFAD, essential fatty acid deficiency IVFE, intravenous fat emulsion PN, parenteral nutrition. 

Aspartic Proteinases. This group of proteinases is named for the aspartic acid residue in the active site. Previously, this group of enzymes was often referred to as the "acid proteases" (4). Members of this group are generally found only in eukaryotic organisms. However, clear evidence has been presented that certain viruses, most importantly the virus (HIV-1) considered to give rise to autoimmune deficiency disease (AIDS), and the polio virus, contain coding sequences for a dimeric aspartic proteinase which is involved in the... 

The answer is C. Pyruvate kinase deficiency is ruled out by the elevated serum lactate levels. The coma is associated with a fasting hypoglycemia, which is indicative of pyruvate carboxylase deficiency. The elevated citrulline and lysine in the serum are due to a reduction of aspartic acid levels, which are caused by the reduced levels of oxaloacetate, the product of the pymvate carboxylase reaction. 

Orotic acid is an intermediate in pyrimidine synthesis. It is synthesized from the transcar-bamylation of aspartic acid and subsequent intramolecular condensation. Any defect in ureagenesis causing accumulation of intracellular carbamoyl phosphate provides substrate for orotic acid synthesis. Therefore, a defect of OTC, or any defect distal to this step, can cause orotic aciduria. The detection of elevated orotic acid in the urine is most useful in differentiating between patients with OTC deficiency and either CPSI- or NAGS-deficient patients in whom orotic aciduria is not present. 

Only three cases of aldolase deficiency have been described. Beutler et aF have described a boy with an unstable enzyme with mental retardation and hemolytic anemia and dysmorphic features. Kishi et al described a patient with severe hemolytic anemia, exacerbated by infection, but none of the features described by Beutler et al. Kishi identified the mutation, leading to a conversion of aspartic acid at position 128 to glycine. Kreuder et ai reported on a boy with hemolytic anemia and myopathy caused by aldolase A deficiency. They identified a mutation, causative of an amino acid substitution at position 206 (Glu to Lys). 

In nonlegumes, Mo deficiency hampers NOj" reduction and decreases the amounts of most amino acids. Addition of Mo to deficient plants has been found to increase the contents of glutamic acid, glutamine, a-alanine, serine, and aspartic acid in spinach Spinacea oleracea L.), cauliflower, tomato Lycopersicon esculentum Mill.) (Mulder et al., 1959), and maize (Berducou and Mache, 1963). However, decreases in the contents of some amino acids and amides during later stages of growth of Mo-fertilized crops can result from their incorporation into proteins or from subsequent metabolic reactions such as transamination reactions or conversion to amides (Possingham, 1957). 

Hussain I, Powell D, Hewlett DR, Tew DG, Meek TD, Chapman C, Gloger IS, Murphy KE, Southan CD, Ryan DM, Smith TS, Simmons DL, Walsh FS, Dingwall C, Christie G (1999) Identification of a novel aspartic protease (Asp2) as P-secretase. Mol Cell Neurosci 14 419-427 Ikemoto A, Nitta A, Furukawa S, Ohishi M, Nakamura A, Fuji Y, Okuytuna H (2000) Dietary n-3 fatty acid deficiency decreases nerve growth factor content in rat hippocampus. Neurosci Lett 285 99-102... 

Acidic amino acids (aspartic acid + glutamic acid) predominate in tree nuts (Table 2.5). Similar to other plant proteins, tree nut proteins are incomplete proteins. When compared to the Food and Agricultural Organization (FAO) and World Health Organization (WHO)-recommended pattern for essential amino acids for a 2-5 year old, ttyptophan is the first limiting amino acid in all tree nuts except macadamia, where lysine is the first. However, compared to the FAO- and WHO-reconunended essential amino acid pattern for an adult, only almond is deficient in sulfur amino acids (methionine -I- cysteine), whereas all others contain adequate amounts of all of the essential amino acids. 

Several laboratories have been concerned with the effect of ascorbic acid deficiency on amino acid metabolism. Two main aspects have been investigated (1) a rather unspecific effect on the amino acid content in muscle and in blood and (2) a more specific action of vitamin C on the hydroxylation of some amino acids or intermediates in amino acid biosynthesis. Vitamin C deficiency alters the ratio of the various amino acid concentrations in muscle and blood. In muscle, while glutamic acid, leucine, valine, and methionine levels increase, glutamine and aspartic acid concentrations decrease. In blood of scorbutic guinea pigs, the concentrations of most of the amino acids decrease, while phenylalanine, leucine, and histidine levels rise. There is no definite explanation for these changes they indicate only that ascorbic acid is directly or indirectly involved with amino acid metabolism. 

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