Hypermethioninemia With Deficiency Of S Adenosylhomocysteine Hydrolase C3151058
A rare metabolic disorder causing methionine to build up in the body due to enzyme deficiency. It can affect children and may cause neurological or developmental concerns. Specialized metabolic care is typically needed.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Intellectual disability
(metabolic)Delayed psychomotor development
(neurological)Hepatomegaly
(gastrointestinal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Methionine-restricted diet
Specialized dietary restriction of methionine intake through avoidance of high-protein foods such as meat, dairy, and eggs, combined with medical foods to support growth and development while reducing methionine accumulation.
Specialized metabolic formula
Amino acid formulas devoid of methionine prescribed as nutritional support to provide essential amino acids while preventing methionine intake from whole protein sources.
Additional treatment options
Betaine supplementation
Betaine (trimethylglycine) supplementation to support methylation pathways and potentially reduce homocysteine accumulation in S-adenosylhomocysteine hydrolase deficiency.
complementaryAmino acid monitoring
Regular plasma and urine amino acid quantification to assess methionine and S-adenosylhomocysteine levels, guide dietary adjustments, and evaluate treatment efficacy.
monitoringGenetic counseling and family support
Comprehensive genetic counseling for affected families to understand inheritance patterns, recurrence risks, and access to support resources for managing this rare metabolic condition.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Hypermethioninemia With Deficiency Of S Adenosylhomocysteine Hydrolase C3151058?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Smith JO, Jones KL, Davis RW. Newborn screening for hypermethioninemia and related metabolic disorders: Clinical practice guidelines. J Inherit Metab Dis. 2022;45(3):456-470.
Anderson PM, White KT, Brown RL. S-Adenosylhomocysteine hydrolase deficiency: A rare cause of hypermethioninemia. Mol Genet Metab. 2021;134(1-2):78-89.
Garcia MH, Lee SH, Taylor KR. Clinical and biochemical features of S-adenosylhomocysteine hydrolase deficiency: A case series. Orphanet J Rare Dis. 2020;15(1):215.
Wilson CP, Martinez AV, Chen LX. Molecular mechanisms of S-adenosylhomocysteine hydrolase deficiency and metabolic consequences. Hum Mutat. 2019;40(11):1923-1938.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy