HHH syndrome

A hereditary deficiency in ornithine metabolism characterized by failure to thrive, liver abnormalities (acute hepatitits and HEPATOMEGALY), intellectual and psychomotor disability, seizures, and other neurologic abnormalities. It is caused by mutations in the SLC25A15 gene. OMIM: 238970

Also Known As:

Networked: 72 relevant articles (0 outcomes, 1 trials/studies)

Bio-Agent Context: Research Results

Experts

1.	Palmieri, Ferdinando: 5 articles (01/2020 - 02/2004)
2.	Martinelli, Diego: 5 articles (11/2019 - 07/2012)
3.	Leipnitz, Guilhian: 5 articles (08/2015 - 11/2009)
4.	Viegas, Carolina Maso: 5 articles (08/2015 - 11/2009)
5.	Wajner, Moacir: 5 articles (08/2015 - 11/2009)
6.	Dionisi-Vici, Carlo: 4 articles (11/2019 - 07/2012)
7.	Zanatta, Angela: 4 articles (08/2013 - 11/2009)
8.	Brugger, Hermann: 3 articles (01/2021 - 07/2003)
9.	Busanello, Estela Natacha Brandt: 3 articles (08/2013 - 12/2012)
10.	Moura, Alana Pimentel: 3 articles (08/2013 - 12/2012)

Related Diseases

1.	Hyperammonemia 02/01/1986 - "Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria)." 01/01/2019 - "We report the first confirmed instance of HHH syndrome in a premature infant (31 2/7 weeks) with severe hyperammonemia (1,300 μmol/L).This case highlights the importance of considering HHH in the differential diagnosis for neonatal hyperammonemia. " 03/11/2015 - "HHH syndrome enters in the differential diagnosis with other inherited or acquired conditions presenting with hyperammonemia. " 12/01/2010 - "Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan." 11/01/2001 - "Eight unrelated Italian patients with the hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome were analyzed for mutations in the ORNT1 gene. "
2.	Intellectual Disability (Idiocy) 01/01/2001 - "In this article, we report a new patient with HHH syndrome, a 52-year-old woman, who had the typical clinical features, except for an absence of mental retardation. " 01/01/2019 - "Mild to moderate cerebellar signs were found in 7/9, intellectual disability in 8/9. At lower limbs, MEPs resulted abnormal in 7/8 patients and PESS in 2/8; peripheral sensory-motor neuropathy was found in 1/9. MRI documented atrophic changes in supra-tentorial brain regions in 6/9 patients, cerebellum in 6/9, spinal cord in 3/7. A predominant corticospinal dysfunction is evident in HHH syndrome, along with milder cerebellar signs, intellectual disability of variable degree and rare peripheral neuropathy. " 03/01/2013 - "If early diagnosis has not been made, patients with inborn metabolic disorders such as HHH syndrome, Hyperornithinemia and dibasic aminoaciduria rapidly progress to sudden death, physical defect or mental retardation resulting in storage of the toxic material into the brain. " 05/01/2000 - "Hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome presents with various neurological symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia. " 12/01/2012 - "Hyperornithinemia is the biochemical hallmark of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, an inherited metabolic disease clinically characterized by mental retardation whose pathogenesis is still poorly known. "
3.	Inborn Urea Cycle Disorders 09/23/2018 - "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a rare inherited urea cycle disorder, can remain undiagnosed for decades and suddenly turn into an acute life-threatening state. " 12/01/2022 - "HHH syndrome, which is a urea cycle disorder, can present as a late-onset metabolic encephalopathy. " 08/01/2003 - "Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder." 01/01/2019 - "Interestingly, two urea cycle disorders, Argininemia and Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome, are clinically characterized by highly penetrant spastic paraplegia. " 03/01/2019 - "Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare metabolic autosomal recessive urea cycle disorder. "
4.	Ornithine Carbamoyltransferase Deficiency Disease 01/01/2021 - "Eighty-nine percent of patients were diagnosed with OTC deficiency, 7% CPS1 deficiency, 3% HHH syndrome and 1% argininosuccinic aciduria. " 09/25/2014 - "High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency." 09/25/2014 - "Creatine synthesis and transport disorders, Triple H syndrome and ornithine transcarbamylase deficiency are treatable inborn errors of metabolism. " 01/01/2010 - "Measurement of secondary urinary orotic acid elevation is also an important clinical test for the differential diagnosis of hyperammonemia due to some of the primary disorders of the urea cycle including ornithine transcarbamylase (OTC) deficiency, and the hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome. " 01/01/2019 - "In those with carbamylphosphate synthetase 1 deficiency (CPS1-D), those with male ornithine transcarbamylase deficiency (OTC-D), and those in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome subgroup, height z-score was positively associated with patients' plasma L-leucine levels. "
5.	Spastic Paraparesis 03/15/2004 - "Hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome is caused by mutations in the SLC25A15 (ORNT1) gene encoding the mitochondrial ornithine transporter, but the mechanism of pathogenesis of the encephalopathy, spastic paraparesis and hepatopathy remains undetermined. " 05/01/2000 - "Hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome presents with various neurological symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia. " 07/01/1992 - "[A case of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome with spastic paraparesis and severe distal muscle atrophy of lower limbs]." 11/01/2001 - "Mitochondrial ornithine transporter deficiency has been called HHH syndrome, because this disorder is characterized by three biochemical abnormalities; hyperornithinemia, hyperammonemia, and homocitrullinuria, and presents with various neurological symptoms; mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia and episodic disturbance of consciousness or coma due to hyperammonemia. " 01/01/2001 - "Patients with mitochondrial ornithine transporter deficiency (or HHH syndrome) present with various neurological symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma due to hyperammonemia. "

Related Drugs and Biologics

1.	HHH syndrome
2.	Ornithine
3.	ornithine transporter (ornithine translocase)
4.	Urea (Carbamide)
5.	Ligases (Synthetase)
6.	Glutamic Acid (Glutamate)
7.	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)
8.	homocitrulline
9.	Protein Isoforms (Isoforms)
10.	Aspartic Acid (Aspartate)