Endocrinology · Endocrinology / Metabolic disorders
Triple H syndrome
also: Hyperornithinemia–hyperammonemia–homocitrullinuria syndrome
Urea cycle disorder from mitochondrial ornithine transporter deficiency.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Metabolic disorders
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- SLC25A15
- Alternative names & eponyms
- Hyperornithinemia–hyperammonemia–homocitrullinuria syndrome
Etiology & mechanism
SLC25A15 loss.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Triple H syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Dandy–Walker malformation
ataxia, developmental delay
2 shared
Glucose transporter type 1 deficiency syndrome
ataxia, developmental delay
2 shared
Hereditary spastic paraplegia type 21
ataxia, spastic paraparesis
2 shared
Hyperinsulinism–hyperammonemia syndrome
developmental delay, hyperammonemia
2 shared
Joubert syndrome
ataxia, developmental delay
2 shared
Leigh syndrome
ataxia, vomiting
2 shared
NARP syndrome
ataxia, developmental delay
2 shared
Poretti–Boltshauser syndrome
ataxia, developmental delay
2 shared
Reye syndrome
lethargy, vomiting
2 shared
Shaken baby syndrome
lethargy, vomiting
Shares genes with
None.
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