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Histidinemia

MedGen UID:
113135
Concept ID:
C0220992
Disease or Syndrome
Synonyms: Deficiency of histidine ammonia-lyase; HAL DEFICIENCY; HIS DEFICIENCY; HISTIDASE DEFICIENCY; HISTIDINE AMMONIA-LYASE DEFICIENCY; Hyperhistidinemia
SNOMED CT: Deficiency of histidine a-deaminase (124628005); Deficiency of histidinase (124628005); Deficiency of histidase (124628005); Deficiency of histidine ammonia-lyase (124628005); Histidinemia (410058007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): HAL (12q23.1)
 
HPO: HP:0010906
Monarch Initiative: MONDO:0009345
OMIM®: 235800
Orphanet: ORPHA2157

Definition

Histidinemia is a metabolic disorder characterized by increased levels of histidine in blood, urine, and cerebrospinal fluid, and decreased levels of the metabolite urocanic acid in blood, urine, and skin cells. Although histidinemia was originally associated with mental retardation and speech defects, it is generally considered to be a benign disorder (Levy et al., 2001). However, it is possible that histidinemia may be a risk factor for developmental disorders in certain individuals under specific circumstances, such as perinatal events (Ishikawa, 1987). [from OMIM]

Additional description

From MedlinePlus Genetics
Histidinemia is an inherited condition characterized by elevated levels of histidine in blood, urine, and the fluid that surrounds the brain and spinal cord (cerebrospinal fluid). Histidine is an amino acid that acts as a building block for many different proteins. 

In most cases, histidinemia does not cause health problems. Most people with elevated histidine levels are unaware that they have this condition. Rarely, people with histidinemia have intellectual disabilities, learning disabilities, or behavioral problems. Having a medical complication during or soon after birth might increase the risk of developmental problems in people with histidinemia.   https://medlineplus.gov/genetics/condition/histidinemia

Clinical features

From HPO
Histidinuria
MedGen UID:
1731918
Concept ID:
C5399766
Finding
An increased concentration of histidine in the urine.
Elevated urinary N-tau-ribosylhistidine level
MedGen UID:
1864168
Concept ID:
C5937376
Finding
Presence of N tau-ribosylhistidine (His-R) in the urine. His-R is a histidine derivative found in the urine of histidinemic patients.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Histidinemia
MedGen UID:
113135
Concept ID:
C0220992
Disease or Syndrome
Histidinemia is a metabolic disorder characterized by increased levels of histidine in blood, urine, and cerebrospinal fluid, and decreased levels of the metabolite urocanic acid in blood, urine, and skin cells. Although histidinemia was originally associated with mental retardation and speech defects, it is generally considered to be a benign disorder (Levy et al., 2001). However, it is possible that histidinemia may be a risk factor for developmental disorders in certain individuals under specific circumstances, such as perinatal events (Ishikawa, 1987).

Conditions with this feature

Histidinemia
MedGen UID:
113135
Concept ID:
C0220992
Disease or Syndrome
Histidinemia is a metabolic disorder characterized by increased levels of histidine in blood, urine, and cerebrospinal fluid, and decreased levels of the metabolite urocanic acid in blood, urine, and skin cells. Although histidinemia was originally associated with mental retardation and speech defects, it is generally considered to be a benign disorder (Levy et al., 2001). However, it is possible that histidinemia may be a risk factor for developmental disorders in certain individuals under specific circumstances, such as perinatal events (Ishikawa, 1987).

Professional guidelines

PubMed

Brosco JP, Sanders LM, Dharia R, Guez G, Feudtner C
Pediatrics 2010 Mar;125(3):417-9. Epub 2010 Feb 15 doi: 10.1542/peds.2009-2060. PMID: 20156889
Levy HL, Shih VE, Madigan PM
N Engl J Med 1974 Dec 5;291(23):1214-9. doi: 10.1056/NEJM197412052912303. PMID: 4421298
van Sprang FJ, Wadman SK
Acta Paediatr Scand 1967 Sep;56(5):493-7. doi: 10.1111/j.1651-2227.1967.tb15413.x. PMID: 6050352

Recent clinical studies

Etiology

Lucca A, Catalano M, Valsasina R, Fara C, Smeraldi E
Biol Psychiatry 1990 Jan 1;27(1):69-75. doi: 10.1016/0006-3223(90)90021-s. PMID: 2297554
Ishikawa M
Acta Paediatr Jpn 1987 Apr;29(2):224-8. doi: 10.1111/j.1442-200x.1987.tb00037.x. PMID: 2472732
Tada K, Tateda H, Arashima S, Sakai K, Kitagawa T, Aoki K, Suwa S, Kawamura M, Oura T, Takesada M, Kuroda Y, Yamashita F, Matsuda I, Naruse H
J Pediatr 1982 Oct;101(4):562-3. doi: 10.1016/s0022-3476(82)80702-6. PMID: 7119955
Snyderman SE, Sansaricq C, Norton PM, Manka M
J Pediatr 1979 Nov;95(5 Pt 1):712-5. doi: 10.1016/s0022-3476(79)80716-7. PMID: 490237
Levy HL, Shih VE, Madigan PM
N Engl J Med 1974 Dec 5;291(23):1214-9. doi: 10.1056/NEJM197412052912303. PMID: 4421298

Diagnosis

Brosco JP, Sanders LM, Dharia R, Guez G, Feudtner C
Pediatrics 2010 Mar;125(3):417-9. Epub 2010 Feb 15 doi: 10.1542/peds.2009-2060. PMID: 20156889
Aoki K
Southeast Asian J Trop Med Public Health 2003;34 Suppl 3:80. PMID: 15906702
Virmani K, Widhalm K
J Am Coll Nutr 1993 Apr;12(2):115-24. doi: 10.1080/07315724.1993.10718291. PMID: 8463510
Berry HK, Poncet IB
Clin Chim Acta 1970 Jul;29(1):83-8. doi: 10.1016/0009-8981(70)90225-1. PMID: 5533434
Arch Dermatol 1968 Sep;98(3):317-9. doi: 10.1001/archderm.98.3.317. PMID: 4299846

Therapy

Page T
J Autism Dev Disord 2000 Oct;30(5):463-9. doi: 10.1023/a:1005563926383. PMID: 11098885
Nyhan WL, Hilton S
Am J Med Genet 1992 Nov 15;44(5):558-61. doi: 10.1002/ajmg.1320440505. PMID: 1481808
Khanna R, Chang TM
Int J Artif Organs 1990 Mar;13(3):189-95. PMID: 2347667
Kuroda Y, Ogawa T, Ito M, Watanabe T, Takeda E, Toshima K, Miyao M
J Pediatr 1980 Aug;97(2):269-72. doi: 10.1016/s0022-3476(80)80493-8. PMID: 7400897
Snyderman SE, Sansaricq C, Norton PM, Manka M
J Pediatr 1979 Nov;95(5 Pt 1):712-5. doi: 10.1016/s0022-3476(79)80716-7. PMID: 490237

Prognosis

Kitagawa T
Pediatr Endocrinol Rev 2012 Oct;10 Suppl 1:8-25. PMID: 23330242
Ishikawa M
Acta Paediatr Jpn 1987 Apr;29(2):224-8. doi: 10.1111/j.1442-200x.1987.tb00037.x. PMID: 2472732
Silver AA
J Dev Behav Pediatr 1986 Apr;7(2):84-92. doi: 10.1097/00004703-198604000-00003. PMID: 2422217
Tada K, Tateda H, Arashima S, Sakai K, Kitagawa T, Aoki K, Suwa S, Kawamura M, Oura T, Takesada M
Eur J Pediatr 1984 Aug;142(3):204-7. doi: 10.1007/BF00442450. PMID: 6468444
Snyderman SE, Sansaricq C, Norton PM, Manka M
J Pediatr 1979 Nov;95(5 Pt 1):712-5. doi: 10.1016/s0022-3476(79)80716-7. PMID: 490237

Clinical prediction guides

Ajikumar A, Premkumar AKN, Narayanan SP
Sci Rep 2023 Oct 14;13(1):17461. doi: 10.1038/s41598-023-44749-5. PMID: 37838762Free PMC Article
Nobile M, Maffei P, Nöthen MM, Rietschel M, Smeraldi E, Catalano M
Psychiatr Genet 1997 Autumn;7(3):107-9. doi: 10.1097/00041444-199723000-00003. PMID: 9323322
Virmani K, Widhalm K
J Am Coll Nutr 1993 Apr;12(2):115-24. doi: 10.1080/07315724.1993.10718291. PMID: 8463510
Yasuda N
Hum Hered 1984;34(1):1-8. doi: 10.1159/000153410. PMID: 6735410
Thalhammer O, Scheibenreiter S, Pantlitschko M
Z Kinderheilkd 1971;109(4):279-92. doi: 10.1007/BF00438971. PMID: 4995301

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