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Generalized aminoaciduria

MedGen UID:
339863
Concept ID:
C1847868
Finding
Synonym: Aminoaciduria, generalized
 
HPO: HP:0002909

Definition

An increased concentration of all types of amino acid in the urine. [from HPO]

Term Hierarchy

Conditions with this feature

Multiple acyl-CoA dehydrogenase deficiency
MedGen UID:
75696
Concept ID:
C0268596
Disease or Syndrome
Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in which presentations can be divided into type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenital anomalies), and type III (late onset). Individuals with type I or II MADD typically become symptomatic in the neonatal period with severe metabolic acidosis, which may be accompanied by profound hypoglycemia and hyperammonemia. Many affected individuals die in the newborn period despite metabolic treatment. In those who survive the neonatal period, recurrent metabolic decompensation resembling Reye syndrome and the development of hypertrophic cardiomyopathy can occur. Congenital anomalies may include dysmorphic facial features, large cystic kidneys, hypospadias and chordee in males, and neuronal migration defects (heterotopias) on brain MRI. Individuals with type III MADD, the most common presentation, can present from infancy to adulthood. The most common symptoms are muscle weakness, exercise intolerance, and/or muscle pain, although metabolic decompensation with episodes of rhabdomyolysis can also be seen. Rarely, individuals with late-onset MADD (type III) may develop severe sensory neuropathy in addition to proximal myopathy.
Vitamin D-dependent rickets, type 1
MedGen UID:
124344
Concept ID:
C0268689
Disease or Syndrome
Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). There are several forms of the condition that are distinguished primarily by their genetic causes: type 1A (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A). There is also evidence of a very rare form of the condition, called type 2B (VDDR2B), although not much is known about this form.\n\nThe signs and symptoms of vitamin D-dependent rickets begin within months after birth, and most are the same for all types of the condition. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop abnormally curved (bowed) legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the areas near the ends of bones where new bone forms (metaphyses), especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures.\n\nIn vitamin D-dependent rickets, there is an imbalance of certain substances in the blood. An early sign in all types of the condition is low levels of the mineral calcium (hypocalcemia), which is essential for the normal formation of bones and teeth. Affected individuals also develop high levels of a hormone involved in regulating calcium levels called parathyroid hormone (PTH), which leads to a condition called secondary hyperparathyroidism. Low levels of a mineral called phosphate (hypophosphatemia) also occur in affected individuals. Vitamin D-dependent rickets types 1 and 2 can be grouped by blood levels of a hormone called calcitriol, which is the active form of vitamin D; individuals with VDDR1A and VDDR1B have abnormally low levels of calcitriol and individuals with VDDR2A and VDDR2B have abnormally high levels.\n\nHair loss (alopecia) can occur in VDDR2A, although not everyone with this form of the condition has alopecia. Affected individuals can have sparse or patchy hair or no hair at all on their heads. Some affected individuals are missing body hair as well.
Homozygous 11P15-p14 deletion syndrome
MedGen UID:
338336
Concept ID:
C1847866
Disease or Syndrome
Nephropathic cystinosis
MedGen UID:
419735
Concept ID:
C2931187
Disease or Syndrome
Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.
Fanconi renotubular syndrome 2
MedGen UID:
462002
Concept ID:
C3150652
Disease or Syndrome
Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.
Fanconi-Bickel syndrome
MedGen UID:
501176
Concept ID:
C3495427
Disease or Syndrome
Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport.
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
MedGen UID:
1682503
Concept ID:
C5191055
Disease or Syndrome
The two forms of deoxyguanosine kinase (DGUOK) deficiency are a neonatal multisystem disorder and an isolated hepatic disorder that presents later in infancy or childhood. The majority of affected individuals have the multisystem illness with hepatic disease (jaundice, cholestasis, hepatomegaly, and elevated transaminases) and neurologic manifestations (hypotonia, nystagmus, and psychomotor retardation) evident within weeks of birth. Those with isolated liver disease may also have renal involvement and some later develop mild hypotonia. Progressive hepatic disease is the most common cause of death in both forms.

Professional guidelines

PubMed

Ho S, Lukacs Z, Hoffmann GF, Lindner M, Wetter T
Clin Chem 2007 Jul;53(7):1330-7. Epub 2007 May 18 doi: 10.1373/clinchem.2006.081802. PMID: 17513288
Schmidt C, Vester U, Hesse A, Lahme S, Lang F, Zerres K, Eggermann T; Arbeitsgemeinschaft Pädiatrische Nephrologie
Urol Res 2004 May;32(2):75-8. Epub 2004 Feb 26 doi: 10.1007/s00240-004-0405-y. PMID: 14991253

Recent clinical studies

Etiology

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Vignon M, Javaugue V, Alexander MP, El-Karoui K, Karras A, Roos-Weil D, Royer B, Asli B, Knebelmann B, Touchard G, Jaccard A, Arnulf B, Bridoux F, Leung N, Fermand JP
Leukemia 2017 Jan;31(1):123-129. Epub 2016 Jul 20 doi: 10.1038/leu.2016.195. PMID: 27435002
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Nephrol Dial Transplant 2012 Aug;27(8):3224-7. Epub 2012 Apr 17 doi: 10.1093/ndt/gfs061. PMID: 22510381
Sumboonnanonda A, Malasit P, Tanphaichitr VS, Ong-ajyooth S, Petrarat S, Vongjirad A
Pediatr Nephrol 2003 Mar;18(3):257-60. Epub 2003 Feb 26 doi: 10.1007/s00467-003-1067-7. PMID: 12644919

Diagnosis

Govindarajan S, Khandelwal P, Sharma S, Agarwala A, Sinha A, Hari P, Bagga A
Indian J Pediatr 2023 Feb;90(2):178-180. Epub 2022 Nov 3 doi: 10.1007/s12098-022-04372-0. PMID: 36324017
Foreman JW
Pediatr Clin North Am 2019 Feb;66(1):159-167. doi: 10.1016/j.pcl.2018.09.002. PMID: 30454741
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Earle KE, Seneviratne T, Shaker J, Shoback D
J Bone Miner Res 2004 May;19(5):714-21. doi: 10.1359/jbmr.2004.19.5.714. PMID: 15068493
Lacy MQ, Gertz MA
Hematol Oncol Clin North Am 1999 Dec;13(6):1273-80. doi: 10.1016/s0889-8588(05)70126-x. PMID: 10626150

Therapy

Lenain R, Hamroun A, Lion G, Chamley P, Bui L, Lionet A, Hazzan M, Provôt F
Medicine (Baltimore) 2019 Dec;98(52):e18478. doi: 10.1097/MD.0000000000018478. PMID: 31876733Free PMC Article
Min HK, Kim EO, Lee SJ, Chang YK, Suh KS, Yang CW, Kim SY, Hwang HS
BMC Nephrol 2013 Jan 16;14:13. doi: 10.1186/1471-2369-14-13. PMID: 23320835Free PMC Article
Earle KE, Seneviratne T, Shaker J, Shoback D
J Bone Miner Res 2004 May;19(5):714-21. doi: 10.1359/jbmr.2004.19.5.714. PMID: 15068493
VanderJagt DJ, Peery B, Thacher T, Pastuszyn A, Hollis BW, Glew RH
J Trop Pediatr 1999 Oct;45(5):258-64. doi: 10.1093/tropej/45.5.258. PMID: 10584465
Stiff PJ, McKenzie RS, Potempa LD, Albain K, Koch D, Braud E, Bansal VK, Weidner MK, Lanzotti VJ, Chun HG
J Clin Oncol 1991 Aug;9(8):1487-94. doi: 10.1200/JCO.1991.9.8.1487. PMID: 2072148

Prognosis

Shi X, Guo T, Wen Y, Ye W, Ye W, Zheng K, Qin Y, Li X, Zhang F, Chen L
Ren Fail 2024 Dec;46(1):2302409. Epub 2024 Jan 26 doi: 10.1080/0886022X.2024.2302409. PMID: 38275162Free PMC Article
Ristoff E, Larsson A
Orphanet J Rare Dis 2007 Mar 30;2:16. doi: 10.1186/1750-1172-2-16. PMID: 17397529Free PMC Article
Lacy MQ, Gertz MA
Hematol Oncol Clin North Am 1999 Dec;13(6):1273-80. doi: 10.1016/s0889-8588(05)70126-x. PMID: 10626150
Stiff PJ, McKenzie RS, Potempa LD, Albain K, Koch D, Braud E, Bansal VK, Weidner MK, Lanzotti VJ, Chun HG
J Clin Oncol 1991 Aug;9(8):1487-94. doi: 10.1200/JCO.1991.9.8.1487. PMID: 2072148
Charnas LR, Bernardini I, Rader D, Hoeg JM, Gahl WA
N Engl J Med 1991 May 9;324(19):1318-25. doi: 10.1056/NEJM199105093241904. PMID: 2017228

Clinical prediction guides

Lenain R, Hamroun A, Lion G, Chamley P, Bui L, Lionet A, Hazzan M, Provôt F
Medicine (Baltimore) 2019 Dec;98(52):e18478. doi: 10.1097/MD.0000000000018478. PMID: 31876733Free PMC Article
Ristoff E, Larsson A
Orphanet J Rare Dis 2007 Mar 30;2:16. doi: 10.1186/1750-1172-2-16. PMID: 17397529Free PMC Article
Kobayashi T, Muto S, Nemoto J, Miyata Y, Ishiharajima S, Hironaka M, Asano Y, Kusano E
Clin Nephrol 2006 Jun;65(6):427-32. doi: 10.5414/cnp65427. PMID: 16792139
Bingham C, Ellard S, Nicholls AJ, Pennock CA, Allen J, James AJ, Satchell SC, Salzmann MB, Hattersley AT
Diabetes 2001 Sep;50(9):2047-52. doi: 10.2337/diabetes.50.9.2047. PMID: 11522670
Charnas LR, Bernardini I, Rader D, Hoeg JM, Gahl WA
N Engl J Med 1991 May 9;324(19):1318-25. doi: 10.1056/NEJM199105093241904. PMID: 2017228

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