Triple H syndrome

Also known as: Hyperornithinemia–hyperammonemia–homocitrullinuria syndrome

Urea cycle disorder from mitochondrial ornithine transporter deficiency.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Metabolic disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: SLC25A15

Etiology & mechanism

SLC25A15 loss.

Gene(s) involved (1)

SLC25A15

Symptoms & signs (7)

ataxiadevelopmental delayhyperammonemialethargyprotein aversionspastic paraparesisvomiting

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