Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction.



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Narrow down the case reports



Total: 20 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(17.5%)		 22465082
 Long-term follow-up of four patients affected by HHH syndrome.
Kim SZ, Song WJ, Nyhan WL, Ficicioglu C, Mandell R, Shih VE.
Clin Chim Acta. 2012;413(13-14):1151-5.
Spasticity
SLC25A15
Adult Amino Acid Transport Systems, Basic Amino Acids DNA Mutational Analysis Disease Progression Females Follow-Up Studies Homo sapiens Hyperammonemia Male Middle Aged Mitochondrial Membrane Transport Proteins Phenotype Time Factors Urea Cycle Disorders, Inborn
1
(17.5%)		 16376511
 A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome.
Torisu H, Kira R, Kanazawa N, Takemoto M, Sanefuji M, Sakai Y, Tsujino S, Hara T.
Brain Dev. 2006;28(5):332-5.
Seizure Spastic paraplegia
SLC25A15
p|SUB|R|275|X;RS#:202247807
Adult Amino Acid Metabolism, Inborn Errors Amino Acid Transport Systems, Basic DNA Mutational Analysis Females Homo sapiens Hyperammonemia Japan Male Mitochondrial Diseases Mitochondrial Membrane Transport Proteins Mutation Proteins
1
(17.5%)		 11814739
 A novel mutation, P126R, in a Japanese patient with HHH syndrome.
Miyamoto T, Kanazawa N, Hayakawa C, Tsujino S.
Pediatr Neurol. 2002;26(1):65-7.
Ataxia Spastic paraparesis
SLC25A15
p|SUB|P|126|R
Base Sequence Brain Diseases Carrier Proteins Cyst DNA Primers Exons Gene Expression Homo sapiens Inborn Errors of Metabolism Magnetic Resonance Imaging Male Mitochondrial Diseases Molecular Sequence Data Point Mutation Polymerase Chain Reaction Septum Pellucidum Syndrome X-Ray Computed Tomography
1
(17.5%)		 11355015
 Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.
Miyamoto T, Kanazawa N, Kato S, Kawakami M, Inoue Y, Kuhara T, Inoue T, Takeshita K, Tsujino S.
J Hum Genet. 2001;46(5):260-2.
Ataxia Spastic paraparesis
SLC25A15
p|SUB|R|179|X;RS#:104894429 rs104894429
Amino Acid Metabolism, Inborn Errors Amino Acid Transport Systems, Basic Carrier Proteins Child Codon, Nonsense DNA Mutational Analysis Females Homo sapiens Homozygote Japan Male Membrane Transport Proteins Middle Aged Mitochondria Point Mutation Syndrome
1
(17.5%)		 1291165
 [A case of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome with spastic paraparesis and severe distal muscle atrophy of lower limbs].
Shigeto H, Yamada T, Kobayashi T, Goto I.
Rinsho Shinkeigaku. 1992;32(7):729-32.
Gait disturbance Spastic paraparesis
Amino Acid Metabolism, Inborn Errors Electromyography Homo sapiens Leg Male Muscular Atrophy Spinal Cord Syndrome Tropical Spastic Paraparesis
6
(4.0%)		 30243302
(6151189)
 Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report.
Silfverberg T, Sahlander F, Enlund M, Oscarson M, Hardstedt M.
J Med Case Rep. 2018;12(1):274.
Hyperammonemia
SLC25A15
Females Homo sapiens Hyperammonemia Internet Male Middle Aged Unconscious State Urea Cycle Disorders, Inborn
6
(4.0%)		 25411929
 Ocular manifestations in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a rare association.
Kumar K, Agarwal A, Agarwal A, Dhawan A, Chandani N, Raj P.
Retin Cases Brief Rep. 2015;9(2):134-7.
Chorioretinal atrophy
Differential Diagnosis Fluorescein Angiography Homo sapiens Hyperammonemia Male Myopia Retinal Degeneration Tomography, Optical Coherence Urea Cycle Disorders, Inborn
6
(4.0%)		 24721342
(4015418)
 A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein.
Ersoy Tunal N, Marobbio CM, Tiryakioglu NO, Punzi G, Saygl SK, Onal H, Palmieri F.
Mol Genet Metab. 2014;112(1):25-9.
Seizure
ORC1 SLC25A15
c|SUB|C|44|T;RS#:765136006 p|SUB|A|15|V;RS#:765136006
Amino Acid Transport Systems, Basic Child DNA Mutational Analysis Homo sapiens Male Mitochondria Mitochondrial Membrane Transport Proteins Point Mutation Sequence Alignment Urea Cycle Disorders, Inborn
6
(4.0%)		 23829977
(3706312)
 Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management.
Grunert SC, Villavicencio-Lorini P, Wermuth B, Lehnert W, Sass JO, Schwab KO.
J Diabetes Metab Disord. 2013;12(1):37.
Diabetes mellitus
OTC
c|SUB|C|533|T;RS#:72556284 p|SUB|T|178|M;RS#:72556284
6
(4.0%)		 18376250
 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) presenting with acute fulminant hepatic failure.
Mhanni AA, Chan A, Collison M, Seifert B, Lehotay DC, Sokoro A, Huynh HQ, Greenberg CR.
J Pediatr Gastroenterol Nutr. 2008;46(3):312-5.
Hyperammonemia
SLC25A15
Amino Acid Transport Systems, Basic Diet, Protein-Restricted Females Homo sapiens Hyperammonemia Inborn Errors of Metabolism Infant Liver Failure, Acute Mitochondrial Membrane Transport Proteins Point Mutation Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 40

HPO ID Term Frequency
HP:0001347 Hyperreflexia Very frequent (99-80%)
HP:0001987 Hyperammonemia Very frequent (99-80%)
HP:0011965 Abnormal circulating citrulline concentration Very frequent (99-80%)
HP:0012026 Hyperornithinemia Very frequent (99-80%)
HP:0012758 Neurodevelopmental delay Very frequent (99-80%)
HP:0100543 Cognitive impairment Very frequent (99-80%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001254 Lethargy Frequent (79-30%)
HP:0001258 Spastic paraplegia Frequent (79-30%)
HP:0001289 Confusion Frequent (79-30%)
HP:0001290 Generalized hypotonia Frequent (79-30%)
HP:0001328 Specific learning disability Frequent (79-30%)
HP:0001410 Decreased liver function Frequent (79-30%)
HP:0001508 Failure to thrive Frequent (79-30%)
HP:0002038 Protein avoidance Frequent (79-30%)
HP:0002073 Progressive cerebellar ataxia Frequent (79-30%)
HP:0002120 Cerebral cortical atrophy Frequent (79-30%)
HP:0002169 Clonus Frequent (79-30%)
HP:0002240 Hepatomegaly Frequent (79-30%)
HP:0002370 Poor coordination Frequent (79-30%)
HP:0002495 Impaired vibratory sensation Frequent (79-30%)
HP:0002572 Episodic vomiting Frequent (79-30%)
HP:0002789 Tachypnea Frequent (79-30%)
HP:0002910 Elevated hepatic transaminase Frequent (79-30%)
HP:0003218 Oroticaciduria Frequent (79-30%)
HP:0006846 Acute encephalopathy Frequent (79-30%)
HP:0007256 Abnormal pyramidal sign Frequent (79-30%)
HP:0011098 Speech apraxia Frequent (79-30%)
HP:0011968 Feeding difficulties Frequent (79-30%)
HP:0012115 Hepatitis Frequent (79-30%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001259 Coma Occasional (29-5%)
HP:0001950 Respiratory alkalosis Occasional (29-5%)
HP:0002064 Spastic gait Occasional (29-5%)
HP:0002123 Generalized myoclonic seizures Occasional (29-5%)
HP:0003256 Abnormality of the coagulation cascade Occasional (29-5%)
HP:0007052 Multifocal cerebral white matter abnormalities Occasional (29-5%)
HP:0000533 Chorioretinal atrophy Very rare (4-1%)
HP:0001399 Hepatic failure Very rare (4-1%)
HP:0040030 Chorioretinal hypopigmentation Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 8

HPO ID Term # of case reports
HP:0001987 Hyperammonemia 9
HP:0001251 Ataxia 2
HP:0002313 Spastic paraparesis 2
HP:0001297 Stroke 1
HP:0002154 Hyperglycinemia 1
HP:0004787 Fulminant hepatitis 1
HP:0012152 Foveoschisis 1
HP:0200065 Chorioretinal degeneration 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SLC25A15 solute carrier family 25 member 15 10166