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Dicarboxylic Aminoaciduria
Glutamate-Aspartate Transport Defect
Presentation
- Clinical and metabolic data obtained on a previously described patient and the present case suggest that some patients with dicarboxylic aminoaciduria might have a selective renal conservation defect without clinical abnormalities, whereas others might[ncbi.nlm.nih.gov]
- Leading experts from Latin America, Africa, Near and Middle East, Indian Subcontinent, Far East, Oceania and Australia present their expert insights into specific conditions, as well as progress and challenges in the development of the specialty.[books.google.com]
- This affects a diseased individual's amino acid pool, as they will have to spend additional resources to replenish the amino acids which would have otherwise been present.[en.wikipedia.org]
- In the kidney, SLC1A1 is present at apical membranes of proximal tubes where it serves as a major route of glutamate and aspartate reuptake from urine.[reactome.org]
- […] reabsorption of anionic amino acids from the glomerular filtrate in the kidney. [2] This has an impact on a diseased individual's amino acid pool, as they will have to spend additional resources to replenish the amino acids which would have otherwise been present[wikidoc.org]
Entire Body System
Cerebral Palsy
- palsy, spastic quadriplegic, 3; 612936; AP4M1 Cerebral palsy, spastic quadriplegic; 612900; KANK1 Cerebral palsy, spastic, symmetric, autosomal recessive; 603513; GAD1 Cerebrocostomandibular-like syndrome; 611209; COG1 Cerebrooculofacioskeletal syndrome[howlingpixel.com]
Amyloidosis
- , 3 or more types; 105200; APOA1 Amyloidosis, Finnish type; 105120; GSN Amyloidosis, hereditary renal; 105200; FGA Amyloidosis, hereditary, transthyretin-related; 105210; TTR Amyloidosis, primary localized cutaneous; 105250; OSMR Amyloidosis, renal; 105200[howlingpixel.com]
Lymphadenopathy
- MD i have been sick to my stomach and been eating less and less everyday for almost three weeks and im pretty sure im not pregnant anyone no what it is or should i go to the doctors MD Lymphadenopathy: 2cm-firm, mobile (right inferior cervical) lab work[healthcaremagic.com]
Respiratoric
Hypoventilation
- […] syndrome; 209880; GDNF Central hypoventilation syndrome, congenital; 209880; ASCL1 Central hypoventilation syndrome, congenital; 209880; BDNF Central hypoventilation syndrome, congenital; 209880; EDN3 Central hypoventilation syndrome, congenital; 209880[howlingpixel.com]
Musculoskeletal
Brachydactyly
- […] type A1; 112500; BDA1B Brachydactyly type A1; 112500; IHH Brachydactyly type A2; 112600; BMPR1B Brachydactyly type A2; 112600; GDF5 Brachydactyly type B1; 113000; ROR2 Brachydactyly type B2; 611377; NOG Brachydactyly type C; 113100; GDF5 Brachydactyly[howlingpixel.com]
Skin
Erythema
- 133020; SCN9A Erythrocyte lactate transporter defect; 245340; SLC16A1 Erythrocytosis, familial, 3; 609820; EGLN1 Erythrocytosis, familial, 4; 611783; EPAS1 Erythrokeratodermia variabilis et progressiva; 133200; GJB3 Erythrokeratodermia variabilis with erythema[howlingpixel.com]
Workup
Serum
Fasting Hypoglycemia
- This hindrance of functionality in individuals with dicarboxylic aminoaciduria may be related to growth retardation, intellectual disability, and a tendency toward fasting hypoglycemia and ketoacidosis.[en.wikipedia.org]
- Symptoms have varied greatly among the few reported cases. 0003355 Autosomal recessive inheritance 0000007 Fasting hypoglycemia Low blood sugar when fasting 0003162 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific[rarediseases.info.nih.gov]
- This hindrance of functionality in individuals with dicarboxylic aminoaciduria may be related to growth retardation, intellectual disability, and a tendency toward fasting hypoglycemia and ketoacidosis. [2] [4] Dicarboxylic aminoaciduria is diagnosed[wikidoc.org]
Colonoscopy
Polyps
- […] childhood; 208230; WISP3 Arthyrgryposis, distal, type 2B; 601680; TNNT3 Arts syndrome; 301835; PRPS1 Aspartylglucosaminuria; 208400; AGA Asphyxiating thoracic dystrophy 2; 611263; IFT80 Asphyxiating thoracic dystrophy 3; 613091; DYNC2H1 Asthma and nasal polyps[howlingpixel.com]
Treatment
- You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
- Treatment - Dicarboxylicaminoaciduria Not supplied. Resources - Dicarboxylicaminoaciduria Not supplied.[checkorphan.org]
- Why should I learn about treatments for kidney failure? If you have advanced chronic kidney disease (CKD), you may soon need treatment to do the work your kidneys can.[webkidneydisease.review]
Prognosis
- Prognosis - Dicarboxylicaminoaciduria Not supplied. Treatment - Dicarboxylicaminoaciduria Not supplied. Resources - Dicarboxylicaminoaciduria Not supplied.[checkorphan.org]
- Goals of the therapy: 0-10 years: phenylalanine values: mg/dL 11-16 years: phenylalanine values: 16 years: phenylalanine values: Pregnant mothers with PKU: phenylalanine values 7mg/dL Prognosis: with immediate and efficient treatment, normal development[slideplayer.com]
Etiology
- […] synthase 3-ketothiolase (tioforase) Krebs cycle 51 Fatty acid oxidation 52 Disorders of fatty acid oxidation During prolonged fasting mitochonrial oxidation of fatty acids provides up to 80% of the total energy requirement. 53 Fatty acid oxidation: Etiology[slideplayer.com]
- […] interesting in light of the strong association between SLC1A1 and OCD, as revealed by genome-wide linkage ( 20 ), replication ( 21 ), and family-based association studies ( 22 – 27 ) of early-onset OCD cohorts in which a genetic contribution to disease etiology[doi.org]
Pathophysiology
- Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices.[books.google.com]
- The study of the genetics and pathophysiology of aminoacidurias have guided our understanding of epithelial transport physiology.[doi.org]
- You should provide a table of published estimates of the physiologic and pathophysiologic ranges for the amino acids and acylcarnitines along with the cut-off values determined by your system.[fda.gov]
Prevention
- […] for Dicarboxylicaminoaciduria includes the 4 symptoms listed below: * High urine level of dicarboxylic amino acid * High urine level of aspartic acid * High urine level of glutamic acid * Hypoglycemia Causes - Dicarboxylicaminoaciduria Hypoglycemia Prevention[checkorphan.org]
- The loading dose was given to the patient 3 hr after a carbohydrate meal, in order to prevent hypoglycemia. Final plasma glucose was 5.8 mmole/liter. Her age at that time was 5 yr.[myslide.es]
- The cell death was prevented by addition of the glutamate receptor antagonists NBQX and MK-801, together with an otherwise saturating concentration of dl-TBOA (100μM).[scipers.com]
- […] in the infant.Early tests may prevent many disorders like alkaptonuria, cystinosis, galactosemia, rickets, Wilson's disease and other metabolism related disorders.[medigoo.com]
- Early treatment can help prevent episodes of metabolic crisis and the resulting health effects. Even with treatment, some children continue to have episodes of metabolic crisis.[newbornscreening.info]