The first Saudi baby with classic homocystinuria diagnosed by universal newborn screening

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Figure 1
- Chromatograph of cystathionine beta-synthase gene showing a homozygous pathogenic variant.

Table 1

- Biochemical and genetic characteristics of the patient with classic homocystinuria.

Test	Result	Reference range
Methionine (first sample)	119	8-75 micromol/L
Methionine (recall sample)	146	8-75 micromol/L
Methionine/Phenylalanine ratio (first sample)	1	Less than 1
Methionine/Phenylalanine ratio (recall sample)	1.9	Less than 1
Serum Homocysteine	204.4 micromol/liter	Less than 10
Molecular analysis	a homozygous pathogenic variant of cystathionine beta-synthase gene c.969G>A p.(Trp323*)

Table 2

- Timeline of the studied participant.

Event date	Clinical presentation	Diagnostic findings	Outcome and intervention
4 June 2019	Birth, asymptomatic	NBS, universal sample	High methionine, high homocystine to repeat NBS
8 June 2019	4 day old, asymptomatic	NBS recall	High methionine, high homocystine
8 June 2019	4 day old, asymptomatic	Dx: homocystinuria	Started on therapy and metabolic formula
16 July 2019	6 week old, asymptomatic	Whole exome sequencing	CBS mutation
NBS - newborn screening, CBS: cystathionine beta-synthase