BabyScreen+ newborn screening

Gene: AHCY

Red List (low evidence)

I would not include on the basis of insufficient evidence that treatment significantly improves outcomes.
Furthermore, there is even less evidence that early (screening) diagnosis and treatment improves the outcome such that the denial of a period of "normal infancy" for the family is justified.

Created: 7 Sep 2024, 6:14 a.m. | Last Modified: 7 Sep 2024, 6:14 a.m.

Panel Version: 1.114

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752

Green List (high evidence)

S-adenosylhomocysteine hydrolase deficiency is a very rare, genetic, inborn error of metabolism disorder characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninemia and elevated serum creatine kinase levels.

From Treatable-ID

Level of Evidence: 4
Methionine restriction, creatinine, phosphatidylcholine: improves psychomotor/cognitive development/IQ; improves neurological manifestations (incl. neuro-imaging); improves systemic manifestations

Level of Evidence: 4 to 5
Liver transplantation: improves psychomotor/cognitive development/IQ; improves neurological manifestations (incl. neuro-imaging); improves systemic manifestations

Created: 26 Sep 2022, 7:29 a.m. | Last Modified: 26 Sep 2022, 7:29 a.m.

Panel Version: 0.205

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal